| commit df4bbec30a36ad0ab0af6d3588a36df3686578ff
|
| Author: davidlagorce <david.lagorce@inserm.fr>
|
| Date: Sun Oct 3 10:11:04 2021 +0200
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|
|
| OCT 2021
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|
|
| diff --git for nl_product1.xml between September 2021 and October 2021
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| old mode 100755
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| new mode 100644
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| index 1710427..d259d74
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| a/Rare | b/Rare |
|---|
| ⋮ | ⋮ |
| 1 | <?xml·version="1.0"·encoding="ISO-8859-1"?> | 1 | <?xml·version="1.0"·encoding="ISO-8859-1"?> |
| 2 | <JDBOR·date="2021-09-01·04:37:45"·version="1.3.7·/·4.1.7·[2020-12-03]·(orientdb·version)"·copyright="Orphanet·(c)·2021"·dbserver="jdbc:sybase:Tds:canard.orpha.net:2020"> | 2 | <JDBOR·date="2021-10-01·04:38:00"·version="1.3.7·/·4.1.7·[2020-12-03]·(orientdb·version)"·copyright="Orphanet·(c)·2021"·dbserver="jdbc:sybase:Tds:canard.orpha.net:2020"> |
| 3 | ··<Availability>· | 3 | ··<Availability>· |
| 4 | ····<Licence> | 4 | ····<Licence> |
| 5 | ······<FullName·lang="en">Creative·Commons·Attribution·4.0·International</FullName> | 5 | ······<FullName·lang="en">Creative·Commons·Attribution·4.0·International</FullName> |
| ⋮ | ⋮ |
| 7 | ······<LegalCode>https://creativecommons.org/licenses/by/4.0/legalcode</LegalCode> | 7 | ······<LegalCode>https://creativecommons.org/licenses/by/4.0/legalcode</LegalCode> |
| 8 | ····</Licence> | 8 | ····</Licence> |
| 9 | ··</Availability> | 9 | ··</Availability> |
| 10 | ··<DisorderList·count="10572"> | 10 | ··<DisorderList·count="10583"> |
| 11 | ····<Disorder·id="17601"> | 11 | ····<Disorder·id="17601"> |
| 12 | ······<OrphaCode>166024</OrphaCode> | 12 | ······<OrphaCode>166024</OrphaCode> |
| 13 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=166024</ExpertLink> | 13 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=166024</ExpertLink> |
| ⋮ | ⋮ |
| 73 | ··············<TextSectionType·id="16907"> | 73 | ··············<TextSectionType·id="16907"> |
| 74 | ················<Name·lang="nl">Definitie·ziekte</Name> | 74 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 75 | ··············</TextSectionType> | 75 | ··············</TextSectionType> |
| 76 | ··············<Contents>Multipele·epifysaire·dysplasie,·Al-Gazali-type·is·een·skeletale·dysplasie·gekenmerkt·door·multipele·epifysaire·dysplasie·(zie·deze·term),·macrocefalie·en·faciale·dysmorfie.</Contents> | 76 | ··············<Contents>Een·zeldzame·primaire·botdysplasie,·gekarakteriseerd·door·de·associatie·van·multipele·epifysaire·dysplasie·met·macrocefalie·en·dysmorfe·gelaatskenmerken·(zoals·boller·voorhoofd,·hypertelorisme,·platte·jukbeenderen,·laagstaande·oren,·en·korte·hals).·Patiënten·hebben·een·normale·gestalte·en·presenteren·zich·met·gezwollen·gewrichten·en·genu·valgum·(X-benen).·Bijkomende·manifestaties·die·worden·gerapporteerd,·zijn·onder·meer·clinodactylie,·spoelvormige·vingers,·en·pectus·excavatum.</Contents> |
| 77 | ············</TextSection> | 77 | ············</TextSection> |
| 78 | ··········</TextSectionList> | 78 | ··········</TextSectionList> |
| 79 | ········</SummaryInformation> | 79 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 1298 | ······</ExternalReferenceList> | 1298 | ······</ExternalReferenceList> |
| 1299 | ······<DisorderDisorderAssociationList·count="0"> | 1299 | ······<DisorderDisorderAssociationList·count="0"> |
| 1300 | ······</DisorderDisorderAssociationList> | 1300 | ······</DisorderDisorderAssociationList> |
| 1301 | ······<SummaryInformationList·count="1"> | 1301 | ······<SummaryInformationList·count="0"> |
| 1302 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 1303 | ··········<TextSectionList·count="0"> | |
| 1304 | ··········</TextSectionList> | |
| 1305 | ··········<TextAuto> | |
| 1306 | ············<Info·lang="nl">Deze·ziekte·is·niet·zeldzaam·in·Europa.·De·ziekte·maakt·geen·deel·uit·van·de·nomenclatuur·van·zeldzame·ziekten·van·Orphanet.</Info> | |
| 1307 | ··········</TextAuto> | |
| 1308 | ········</SummaryInformation> | |
| 1309 | ······</SummaryInformationList> | 1302 | ······</SummaryInformationList> |
| 1310 | ····</Disorder> | 1303 | ····</Disorder> |
| 1311 | ····<Disorder·id="17610"> | 1304 | ····<Disorder·id="17610"> |
| ⋮ | ⋮ |
| 5087 | ····<Disorder·id="17633"> | 5080 | ····<Disorder·id="17633"> |
| 5088 | ······<OrphaCode>166302</OrphaCode> | 5081 | ······<OrphaCode>166302</OrphaCode> |
| 5089 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=166302</ExpertLink> | 5082 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=166302</ExpertLink> |
| 5090 | ······<Name·lang="nl">Goedaardige·partiële·epilepsie·met·secundair·gegeneraliseerde·insulten·in·de·zuigelingentijd</Name> | 5083 | ······<Name·lang="nl">Goedaardige·partiële·epilepsie·met·secundair·gegeneraliseerde·insulten·op·zuigelingenleeftijd</Name> |
| 5091 | ······<DisorderFlagList·count="1"> | 5084 | ······<DisorderFlagList·count="1"> |
| 5092 | ········<DisorderFlag·id="475"> | 5085 | ········<DisorderFlag·id="475"> |
| 5093 | ··········<Value>1</Value> | 5086 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 5135 | ····<Disorder·id="17632"> | 5128 | ····<Disorder·id="17632"> |
| 5136 | ······<OrphaCode>166299</OrphaCode> | 5129 | ······<OrphaCode>166299</OrphaCode> |
| 5137 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=166299</ExpertLink> | 5130 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=166299</ExpertLink> |
| 5138 | ······<Name·lang="nl">Goedaardige·partiële·epilepsie·met·complexe·partiële·insulten·in·de·zuigelingentijd</Name> | 5131 | ······<Name·lang="nl">Goedaardige·partiële·epilepsie·met·complexe·partiële·insulten·op·zuigelingenleeftijd</Name> |
| 5139 | ······<DisorderFlagList·count="1"> | 5132 | ······<DisorderFlagList·count="1"> |
| 5140 | ········<DisorderFlag·id="475"> | 5133 | ········<DisorderFlag·id="475"> |
| 5141 | ··········<Value>1</Value> | 5134 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 5710 | ······</ExternalReferenceList> | 5703 | ······</ExternalReferenceList> |
| 5711 | ······<DisorderDisorderAssociationList·count="0"> | 5704 | ······<DisorderDisorderAssociationList·count="0"> |
| 5712 | ······</DisorderDisorderAssociationList> | 5705 | ······</DisorderDisorderAssociationList> |
| 5713 | ······<SummaryInformationList·count="1"> | 5706 | ······<SummaryInformationList·count="0"> |
| 5714 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 5715 | ··········<TextSectionList·count="0"> | |
| 5716 | ··········</TextSectionList> | |
| 5717 | ··········<TextAuto> | |
| 5718 | ············<Info·lang="nl">Deze·ziekte·is·niet·zeldzaam·in·Europa.·De·ziekte·maakt·geen·deel·uit·van·de·nomenclatuur·van·zeldzame·ziekten·van·Orphanet.</Info> | |
| 5719 | ··········</TextAuto> | |
| 5720 | ········</SummaryInformation> | |
| 5721 | ······</SummaryInformationList> | 5707 | ······</SummaryInformationList> |
| 5722 | ····</Disorder> | 5708 | ····</Disorder> |
| 5723 | ····<Disorder·id="17642"> | 5709 | ····<Disorder·id="17642"> |
| ⋮ | ⋮ |
| 6000 | ··········<Label></Label> | 5986 | ··········<Label></Label> |
| 6001 | ········</DisorderFlag> | 5987 | ········</DisorderFlag> |
| 6002 | ······</DisorderFlagList> | 5988 | ······</DisorderFlagList> |
| 6003 | ······<SynonymList·count="0"> | 5989 | ······<SynonymList·count="1"> |
| | 5990 | ········<Synonym·lang="nl">Reflexepilepsie·door·contact·met·heet·water</Synonym> |
| 6004 | ······</SynonymList> | 5991 | ······</SynonymList> |
| 6005 | ······<DisorderType·id="21394"> | 5992 | ······<DisorderType·id="21394"> |
| 6006 | ········<Name·lang="nl">Ziekte</Name> | 5993 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 6371 | ··········<Label></Label> | 6358 | ··········<Label></Label> |
| 6372 | ········</DisorderFlag> | 6359 | ········</DisorderFlag> |
| 6373 | ······</DisorderFlagList> | 6360 | ······</DisorderFlagList> |
| 6374 | ······<SynonymList·count="0"> | 6361 | ······<SynonymList·count="1"> |
| | 6362 | ········<Synonym·lang="nl">Epilepsie·door·schrikken</Synonym> |
| 6375 | ······</SynonymList> | 6363 | ······</SynonymList> |
| 6376 | ······<DisorderType·id="21394"> | 6364 | ······<DisorderType·id="21394"> |
| 6377 | ········<Name·lang="nl">Ziekte</Name> | 6365 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 11073 | ······</ExternalReferenceList> | 11061 | ······</ExternalReferenceList> |
| 11074 | ······<DisorderDisorderAssociationList·count="0"> | 11062 | ······<DisorderDisorderAssociationList·count="0"> |
| 11075 | ······</DisorderDisorderAssociationList> | 11063 | ······</DisorderDisorderAssociationList> |
| 11076 | ······<SummaryInformationList·count="1"> | 11064 | ······<SummaryInformationList·count="0"> |
| 11077 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 11078 | ··········<TextSectionList·count="0"> | |
| 11079 | ··········</TextSectionList> | |
| 11080 | ··········<TextAuto> | |
| 11081 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 11082 | ··········</TextAuto> | |
| 11083 | ········</SummaryInformation> | |
| 11084 | ······</SummaryInformationList> | 11065 | ······</SummaryInformationList> |
| 11085 | ····</Disorder> | 11066 | ····</Disorder> |
| 11086 | ····<Disorder·id="97"> | 11067 | ····<Disorder·id="97"> |
| ⋮ | ⋮ |
| 11201 | ····<Disorder·id="17568"> | 11182 | ····<Disorder·id="17568"> |
| 11202 | ······<OrphaCode>164736</OrphaCode> | 11183 | ······<OrphaCode>164736</OrphaCode> |
| 11203 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=164736</ExpertLink> | 11184 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=164736</ExpertLink> |
| 11204 | ······<Name·lang="nl">Familiaal·geavanceerde·slaapfasesyndroom</Name> | 11185 | ······<Name·lang="nl">Familiaal·geavanceerde·slaapfase-syndroom</Name> |
| 11205 | ······<DisorderFlagList·count="1"> | 11186 | ······<DisorderFlagList·count="1"> |
| 11206 | ········<DisorderFlag·id="475"> | 11187 | ········<DisorderFlag·id="475"> |
| 11207 | ··········<Value>1</Value> | 11188 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 12998 | ······</ExternalReferenceList> | 12979 | ······</ExternalReferenceList> |
| 12999 | ······<DisorderDisorderAssociationList·count="0"> | 12980 | ······<DisorderDisorderAssociationList·count="0"> |
| 13000 | ······</DisorderDisorderAssociationList> | 12981 | ······</DisorderDisorderAssociationList> |
| 13001 | ······<SummaryInformationList·count="0"> | 12982 | ······<SummaryInformationList·count="1"> |
| | 12983 | ········<SummaryInformation·id="128983"·lang="nl"> |
| | 12984 | ··········<TextSectionList·count="1"> |
| | 12985 | ············<TextSection·id="167907"·lang="nl"> |
| | 12986 | ··············<TextSectionType·id="16907"> |
| | 12987 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 12988 | ··············</TextSectionType> |
| | 12989 | ··············<Contents>Een·zeldzame·primaire·botdysplasie,·gekarakteriseerd·door·de·associatie·van·multipele·epifysaire·dysplasie,·verlies·van·gezichtsvermogen·(met·vroeg·optredende·progressieve·myopie,·verdunning·van·het·netvlies,·en·cataract),·en·conductief·gehoorverlies.·Patiënten·hebben·een·kleine·gestalte·en·vertonen·brachydactylie,·genu·valgum,·en·gewrichtspijn.</Contents> |
| | 12990 | ············</TextSection> |
| | 12991 | ··········</TextSectionList> |
| | 12992 | ········</SummaryInformation> |
| 13002 | ······</SummaryInformationList> | 12993 | ······</SummaryInformationList> |
| 13003 | ····</Disorder> | 12994 | ····</Disorder> |
| 13004 | ····<Disorder·id="126"> | 12995 | ····<Disorder·id="126"> |
| 13005 | ······<OrphaCode>567</OrphaCode> | 12996 | ······<OrphaCode>567</OrphaCode> |
| 13006 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=567</ExpertLink> | 12997 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=567</ExpertLink> |
| 13007 | ······<Name·lang="nl">22q11.2·deletiesyndroom</Name> | 12998 | ······<Name·lang="nl">22q11.2-deletiesyndroom</Name> |
| 13008 | ······<DisorderFlagList·count="1"> | 12999 | ······<DisorderFlagList·count="1"> |
| 13009 | ········<DisorderFlag·id="475"> | 13000 | ········<DisorderFlag·id="475"> |
| 13010 | ··········<Value>1</Value> | 13001 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 13014 | ······<SynonymList·count="13"> | 13005 | ······<SynonymList·count="13"> |
| 13015 | ········<Synonym·lang="nl">22q11DS</Synonym> | 13006 | ········<Synonym·lang="nl">22q11DS</Synonym> |
| 13016 | ········<Synonym·lang="nl">CATCH·22</Synonym> | 13007 | ········<Synonym·lang="nl">CATCH·22</Synonym> |
| 13017 | ········<Synonym·lang="nl">Cayler·cardiofaciaal·syndroom</Synonym> | 13008 | ········<Synonym·lang="nl">Cardiofaciaal·syndroom·van·Cayler</Synonym> |
| 13018 | ········<Synonym·lang="nl">Conotruncale·en·aangezichtsanomalie-syndroom</Synonym> | 13009 | ········<Synonym·lang="nl">Conotruncale·en·aangezichtsanomalie-syndroom</Synonym> |
| 13019 | ········<Synonym·lang="nl">DiGeorge-sequentie</Synonym> | 13010 | ········<Synonym·lang="nl">DiGeorge-sequentie</Synonym> |
| 13020 | ········<Synonym·lang="nl">Microdeletie·22q11.2</Synonym> | 13011 | ········<Synonym·lang="nl">Microdeletie·22q11.2</Synonym> |
| ⋮ | ⋮ |
| 13399 | ····<Disorder·id="17596"> | 13390 | ····<Disorder·id="17596"> |
| 13400 | ······<OrphaCode>165994</OrphaCode> | 13391 | ······<OrphaCode>165994</OrphaCode> |
| 13401 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=165994</ExpertLink> | 13392 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=165994</ExpertLink> |
| 13402 | ······<Name·lang="nl">Resistentie·van·de·hypofyse·tegen·schildklierhormoon</Name> | 13393 | ······<Name·lang="nl">Resistentie·van·hypofyse·tegen·schildklierhormoon</Name> |
| 13403 | ······<DisorderFlagList·count="3"> | 13394 | ······<DisorderFlagList·count="3"> |
| 13404 | ········<DisorderFlag·id="495"> | 13395 | ········<DisorderFlag·id="495"> |
| 13405 | ··········<Value>8192</Value> | 13396 | ··········<Value>8192</Value> |
| ⋮ | ⋮ |
| 13416 | ······</DisorderFlagList> | 13407 | ······</DisorderFlagList> |
| 13417 | ······<SynonymList·count="2"> | 13408 | ······<SynonymList·count="2"> |
| 13418 | ········<Synonym·lang="nl">PRTH</Synonym> | 13409 | ········<Synonym·lang="nl">PRTH</Synonym> |
| 13419 | ········<Synonym·lang="nl">Selectieve·resistentie·van·de·hypofyse·tegen·schildklierhormoon</Synonym> | 13410 | ········<Synonym·lang="nl">Selectieve·resistentie·van·hypofyse·tegen·schildklierhormoon</Synonym> |
| 13420 | ······</SynonymList> | 13411 | ······</SynonymList> |
| 13421 | ······<DisorderType·id="21394"> | 13412 | ······<DisorderType·id="21394"> |
| 13422 | ········<Name·lang="nl">Ziekte</Name> | 13413 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 18323 | ····<Disorder·id="17508"> | 18314 | ····<Disorder·id="17508"> |
| 18324 | ······<OrphaCode>163631</OrphaCode> | 18315 | ······<OrphaCode>163631</OrphaCode> |
| 18325 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=163631</ExpertLink> | 18316 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=163631</ExpertLink> |
| 18326 | ······<Name·lang="nl">Galzuursynthesedefect·met·cholestase·en·malabsorptie</Name> | 18317 | ······<Name·lang="nl">Defect·van·galzuursynthese·met·cholestase·en·malabsorptie</Name> |
| 18327 | ······<DisorderFlagList·count="1"> | 18318 | ······<DisorderFlagList·count="1"> |
| 18328 | ········<DisorderFlag·id="475"> | 18319 | ········<DisorderFlag·id="475"> |
| 18329 | ··········<Value>1</Value> | 18320 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 18845 | ····<Disorder·id="17528"> | 18836 | ····<Disorder·id="17528"> |
| 18846 | ······<OrphaCode>163703</OrphaCode> | 18837 | ······<OrphaCode>163703</OrphaCode> |
| 18847 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=163703</ExpertLink> | 18838 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=163703</ExpertLink> |
| 18848 | ······<Name·lang="nl">Febriele·infectiegerelateerde·epilepsie-syndroom</Name> | 18839 | ······<Name·lang="nl">Febriele·infectie-gerelateerde·epilepsie-syndroom</Name> |
| 18849 | ······<DisorderFlagList·count="1"> | 18840 | ······<DisorderFlagList·count="1"> |
| 18850 | ········<DisorderFlag·id="475"> | 18841 | ········<DisorderFlag·id="475"> |
| 18851 | ··········<Value>1</Value> | 18842 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 19829 | ··········<Label></Label> | 19820 | ··········<Label></Label> |
| 19830 | ········</DisorderFlag> | 19821 | ········</DisorderFlag> |
| 19831 | ······</DisorderFlagList> | 19822 | ······</DisorderFlagList> |
| 19832 | ······<SynonymList·count="3"> | 19823 | ······<SynonymList·count="1"> |
| 19833 | ········<Synonym·lang="nl">Bilaterale·akoestische·neurofibromatose</Synonym> | |
| 19834 | ········<Synonym·lang="nl">Centrale·neurofibromatose</Synonym> | |
| 19835 | ········<Synonym·lang="nl">NF2</Synonym> | 19824 | ········<Synonym·lang="nl">NF2</Synonym> |
| 19836 | ······</SynonymList> | 19825 | ······</SynonymList> |
| 19837 | ······<DisorderType·id="21394"> | 19826 | ······<DisorderType·id="21394"> |
| ⋮ | ⋮ |
| 19979 | ··········<Label></Label> | 19968 | ··········<Label></Label> |
| 19980 | ········</DisorderFlag> | 19969 | ········</DisorderFlag> |
| 19981 | ······</DisorderFlagList> | 19970 | ······</DisorderFlagList> |
| 19982 | ······<SynonymList·count="4"> | 19971 | ······<SynonymList·count="5"> |
| 19983 | ········<Synonym·lang="nl">AMRF</Synonym> | 19972 | ········<Synonym·lang="nl">AMRF</Synonym> |
| 19984 | ········<Synonym·lang="nl">EPM4</Synonym> | 19973 | ········<Synonym·lang="nl">EPM4</Synonym> |
| 19985 | ········<Synonym·lang="nl">Myoclonus·-·nefropathie-syndroom</Synonym> | 19974 | ········<Synonym·lang="nl">Myoclonus·-·nefropathie-syndroom</Synonym> |
| 19986 | ········<Synonym·lang="nl">Progressieve·myoclonische·epilepsie·type·4</Synonym> | 19975 | ········<Synonym·lang="nl">Progressieve·myoclonische·epilepsie·type·4</Synonym> |
| | 19976 | ········<Synonym·lang="nl">Progressive·myoclonusepilepsie·type·4</Synonym> |
| 19987 | ······</SynonymList> | 19977 | ······</SynonymList> |
| 19988 | ······<DisorderType·id="21394"> | 19978 | ······<DisorderType·id="21394"> |
| 19989 | ········<Name·lang="nl">Ziekte</Name> | 19979 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 21832 | ··········</DisorderMappingValidationStatus> | 21822 | ··········</DisorderMappingValidationStatus> |
| 21833 | ········</ExternalReference> | 21823 | ········</ExternalReference> |
| 21834 | ······</ExternalReferenceList> | 21824 | ······</ExternalReferenceList> |
| 21835 | ······<DisorderDisorderAssociationList·count="0"> | 21825 | ······<DisorderDisorderAssociationList·count="1"> |
| | 21826 | ········<DisorderDisorderAssociation> |
| | 21827 | ··········<TargetDisorder·id="220"·cycle="true"/> |
| | 21828 | ··········<RootDisorder·id="22112"> |
| | 21829 | ············<OrphaCode>352740</OrphaCode> |
| | 21830 | ············<Name·lang="nl">Oculair·albinisme·met·congenitale·sensorineurale·doofheid</Name> |
| | 21831 | ··········</RootDisorder> |
| | 21832 | ··········<DisorderDisorderAssociationType·id="21471"> |
| | 21833 | ············<Name·lang="nl">Verplaatst·naar</Name> |
| | 21834 | ··········</DisorderDisorderAssociationType> |
| | 21835 | ········</DisorderDisorderAssociation> |
| 21836 | ······</DisorderDisorderAssociationList> | 21836 | ······</DisorderDisorderAssociationList> |
| 21837 | ······<SummaryInformationList·count="1"> | 21837 | ······<SummaryInformationList·count="1"> |
| 21838 | ········<SummaryInformation·id="89132"·lang="nl"> | 21838 | ········<SummaryInformation·id="89132"·lang="nl"> |
| ⋮ | ⋮ |
| 24735 | ······</DisorderFlagList> | 24735 | ······</DisorderFlagList> |
| 24736 | ······<SynonymList·count="5"> | 24736 | ······<SynonymList·count="5"> |
| 24737 | ········<Synonym·lang="nl">Bilirubine-UGT-deficiëntie</Synonym> | 24737 | ········<Synonym·lang="nl">Bilirubine-UGT-deficiëntie</Synonym> |
| 24738 | ········<Synonym·lang="nl">Bilirubine-uridinedifosfaat-glucuronosyltransferasedeficiëntie</Synonym> | 24738 | ········<Synonym·lang="nl">Deficiëntie·van·UDP-glucuronosyltransferase</Synonym> |
| | 24739 | ········<Synonym·lang="nl">Deficiëntie·van·bilirubine-uridinedifosfaat-glucuronosyltransferase</Synonym> |
| 24739 | ········<Synonym·lang="nl">Erfelijke·ongeconjugeerde·hyperbilirubinemie</Synonym> | 24740 | ········<Synonym·lang="nl">Erfelijke·ongeconjugeerde·hyperbilirubinemie</Synonym> |
| 24740 | ········<Synonym·lang="nl">UDP-glucuronosyltransferasedeficiëntie</Synonym> | |
| 24741 | ········<Synonym·lang="nl">UGT-deficiëntie</Synonym> | 24741 | ········<Synonym·lang="nl">UGT-deficiëntie</Synonym> |
| 24742 | ······</SynonymList> | 24742 | ······</SynonymList> |
| 24743 | ······<DisorderType·id="21394"> | 24743 | ······<DisorderType·id="21394"> |
| ⋮ | ⋮ |
| 25261 | ······</ExternalReferenceList> | 25261 | ······</ExternalReferenceList> |
| 25262 | ······<DisorderDisorderAssociationList·count="0"> | 25262 | ······<DisorderDisorderAssociationList·count="0"> |
| 25263 | ······</DisorderDisorderAssociationList> | 25263 | ······</DisorderDisorderAssociationList> |
| 25264 | ······<SummaryInformationList·count="1"> | 25264 | ······<SummaryInformationList·count="0"> |
| 25265 | ········<SummaryInformation·id="-1"·lang="nl"> | |
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| 25267 | ··········</TextSectionList> | |
| 25268 | ··········<TextAuto> | |
| 25269 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 25270 | ··········</TextAuto> | |
| 25271 | ········</SummaryInformation> | |
| 25272 | ······</SummaryInformationList> | 25265 | ······</SummaryInformationList> |
| 25273 | ····</Disorder> | 25266 | ····</Disorder> |
| 25274 | ····<Disorder·id="17874"> | 25267 | ····<Disorder·id="17874"> |
| ⋮ | ⋮ |
| 25673 | ··············<TextSectionType·id="16907"> | 25666 | ··············<TextSectionType·id="16907"> |
| 25674 | ················<Name·lang="nl">Definitie·ziekte</Name> | 25667 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 25675 | ··············</TextSectionType> | 25668 | ··············</TextSectionType> |
| 25676 | ··············<Contents>De·ziekte·van·Menkes·(MD)·is·een·meestal·ernstige,·multisystemische·aandoening·van·het·kopermetabolisme,·gekenmerkt·door·progressieve·neurodegeneratie·en·geprononceerde·bindweefselafwijkingen·en·typisch·schaarse,·abnormale·staalachtige·haren.</Contents> | 25669 | ··············<Contents>Een·zeldzame·congenitale·aandoening·van·kopermetabolisme·met·ernstige·multisystemische·manifestaties·die·hoofdzakelijk·gekenmerkt·worden·door·progressieve·neurodegeneratie·en·opvallende·anomalieën·van·bindweefsel.·Een·pathognomonisch·kenmerk·is·het·typische·schaarse,·abnormale·kroeshaar.</Contents> |
| 25677 | ············</TextSection> | 25670 | ············</TextSection> |
| 25678 | ··········</TextSectionList> | 25671 | ··········</TextSectionList> |
| 25679 | ········</SummaryInformation> | 25672 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 25968 | ··········<Label></Label> | 25961 | ··········<Label></Label> |
| 25969 | ········</DisorderFlag> | 25962 | ········</DisorderFlag> |
| 25970 | ······</DisorderFlagList> | 25963 | ······</DisorderFlagList> |
| 25971 | ······<SynonymList·count="0"> | 25964 | ······<SynonymList·count="1"> |
| | 25965 | ········<Synonym·lang="nl">Familiale·HLH</Synonym> |
| 25972 | ······</SynonymList> | 25966 | ······</SynonymList> |
| 25973 | ······<DisorderType·id="21394"> | 25967 | ······<DisorderType·id="21394"> |
| 25974 | ········<Name·lang="nl">Ziekte</Name> | 25968 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 29879 | ··············<TextSectionType·id="16907"> | 29873 | ··············<TextSectionType·id="16907"> |
| 29880 | ················<Name·lang="nl">Definitie·ziekte</Name> | 29874 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 29881 | ··············</TextSectionType> | 29875 | ··············</TextSectionType> |
| 29882 | ··············<Contents>Syndroom·van·Treacher-Collins·is·een·congenitale·stoornis·van·de·craniofaciale·ontwikkeling·die·gekarakteriseerd·wordt·door·bilaterale·symmetrische·otomandibulaire·dysplasie·zonder·afwijkingen·aan·de·ledematen,·en·die·geassocieerd·is·met·ernstige·defecten·aan·het·hoofd·en·de·nek.</Contents> | 29876 | ··············<Contents>Een·zeldzame,·genetische·mandibulofaciale·dysostose,·gekarakteriseerd·door·bilaterale·symmetrische·otomandibulaire·dysplasie·met·onder·meer·onderontwikkelde·jukbeenderen·(malaire·hypoplasie),·een·zeer·kleine·onderkaak·(micrognathie)·en·schuin·naar·beneden·hellende·ooglidspleten,·coloboom·van·onderste·oogleden,·microtie,·en·gehoorverlies,·zonder·afwijkingen·van·de·ledematen.·De·intelligentie·is·normaal.</Contents> |
| 29883 | ············</TextSection> | 29877 | ············</TextSection> |
| 29884 | ··········</TextSectionList> | 29878 | ··········</TextSectionList> |
| 29885 | ········</SummaryInformation> | 29879 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 31736 | ····<Disorder·id="17822"> | 31730 | ····<Disorder·id="17822"> |
| 31737 | ······<OrphaCode>169110</OrphaCode> | 31731 | ······<OrphaCode>169110</OrphaCode> |
| 31738 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=169110</ExpertLink> | 31732 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=169110</ExpertLink> |
| 31739 | ······<Name·lang="nl">Immunoglobuline·zware·ketendeficiëntie</Name> | 31733 | ······<Name·lang="nl">Deficiëntie·van·zware·keten·van·immunoglobuline</Name> |
| 31740 | ······<DisorderFlagList·count="1"> | 31734 | ······<DisorderFlagList·count="1"> |
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| 31742 | ··········<Value>1</Value> | 31736 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 32136 | ····<Disorder·id="17816"> | 32130 | ····<Disorder·id="17816"> |
| 32137 | ······<OrphaCode>169082</OrphaCode> | 32131 | ······<OrphaCode>169082</OrphaCode> |
| 32138 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=169082</ExpertLink> | 32132 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=169082</ExpertLink> |
| 32139 | ······<Name·lang="nl">Gecombineerde·immuundeficiëntie·door·CD3·gamma-deficiëntie</Name> | 32133 | ······<Name·lang="nl">Gecombineerde·immuundeficiëntie·door·CD3-gamma-deficiëntie</Name> |
| 32140 | ······<DisorderFlagList·count="1"> | 32134 | ······<DisorderFlagList·count="1"> |
| 32141 | ········<DisorderFlag·id="475"> | 32135 | ········<DisorderFlag·id="475"> |
| 32142 | ··········<Value>1</Value> | 32136 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 33465 | ······</ExternalReferenceList> | 33459 | ······</ExternalReferenceList> |
| 33466 | ······<DisorderDisorderAssociationList·count="0"> | 33460 | ······<DisorderDisorderAssociationList·count="0"> |
| 33467 | ······</DisorderDisorderAssociationList> | 33461 | ······</DisorderDisorderAssociationList> |
| 33468 | ······<SummaryInformationList·count="0"> | 33462 | ······<SummaryInformationList·count="1"> |
| | 33463 | ········<SummaryInformation·id="129128"·lang="nl"> |
| | 33464 | ··········<TextSectionList·count="1"> |
| | 33465 | ············<TextSection·id="167981"·lang="nl"> |
| | 33466 | ··············<TextSectionType·id="16907"> |
| | 33467 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 33468 | ··············</TextSectionType> |
| | 33469 | ··············<Contents>Een·zeldzame·hematologische·aandoening,·gekarakteriseerd·door·de·aanwezigheid·van·20-29%·blastcellen·in·beenmerg,·de·aanwezigheid·van·5-29%·blastcellen·in·perifeer·bloed,·en/of·de·aanwezigheid·van·Auer-staafjes.·Patiënten·vertonen·weken-·of·maandenlang·relatief·stabiele·aantallen·van·bloedcellen·in·perifeer·bloed,·en·specifieke·cytogenetische·en·moleculair·genetische·kenmerken·die·belangrijke·prognostische·factoren·vormen.</Contents> |
| | 33470 | ············</TextSection> |
| | 33471 | ··········</TextSectionList> |
| | 33472 | ········</SummaryInformation> |
| 33469 | ······</SummaryInformationList> | 33473 | ······</SummaryInformationList> |
| 33470 | ····</Disorder> | 33474 | ····</Disorder> |
| 33471 | ····<Disorder·id="335"> | 33475 | ····<Disorder·id="335"> |
| ⋮ | ⋮ |
| 35585 | ····<Disorder·id="17825"> | 35589 | ····<Disorder·id="17825"> |
| 35586 | ······<OrphaCode>169139</OrphaCode> | 35590 | ······<OrphaCode>169139</OrphaCode> |
| 35587 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=169139</ExpertLink> | 35591 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=169139</ExpertLink> |
| 35588 | ······<Name·lang="nl">Voorbijgaande·hypogammaglobulinemie·bij·zuigelingen</Name> | 35592 | ······<Name·lang="nl">Transiënte·hypogammaglobulinemie·op·zuigelingenleeftijd</Name> |
| 35589 | ······<DisorderFlagList·count="1"> | 35593 | ······<DisorderFlagList·count="1"> |
| 35590 | ········<DisorderFlag·id="475"> | 35594 | ········<DisorderFlag·id="475"> |
| 35591 | ··········<Value>1</Value> | 35595 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 37413 | ····<Disorder·id="415"> | 37417 | ····<Disorder·id="415"> |
| 37414 | ······<OrphaCode>1059</OrphaCode> | 37418 | ······<OrphaCode>1059</OrphaCode> |
| 37415 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=1059</ExpertLink> | 37419 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=1059</ExpertLink> |
| 37416 | ······<Name·lang="nl">Blue-rubber-blebnevus</Name> | 37420 | ······<Name·lang="nl">'Blue·rubber·bleb'-naevus</Name> |
| 37417 | ······<DisorderFlagList·count="1"> | 37421 | ······<DisorderFlagList·count="1"> |
| 37418 | ········<DisorderFlag·id="475"> | 37422 | ········<DisorderFlag·id="475"> |
| 37419 | ··········<Value>1</Value> | 37423 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 38800 | ····<Disorder·id="17785"> | 38804 | ····<Disorder·id="17785"> |
| 38801 | ······<OrphaCode>168615</OrphaCode> | 38805 | ······<OrphaCode>168615</OrphaCode> |
| 38802 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=168615</ExpertLink> | 38806 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=168615</ExpertLink> |
| 38803 | ······<Name·lang="nl">Erfelijke·persistentie·van·alfa-foetoproteïne</Name> | 38807 | ······<Name·lang="nl">Hereditaire·persistentie·van·alfa-foetoproteïne</Name> |
| 38804 | ······<DisorderFlagList·count="1"> | 38808 | ······<DisorderFlagList·count="1"> |
| 38805 | ········<DisorderFlag·id="475"> | 38809 | ········<DisorderFlag·id="475"> |
| 38806 | ··········<Value>1</Value> | 38810 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 38849 | ····<Disorder·id="17784"> | 38853 | ····<Disorder·id="17784"> |
| 38850 | ······<OrphaCode>168612</OrphaCode> | 38854 | ······<OrphaCode>168612</OrphaCode> |
| 38851 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=168612</ExpertLink> | 38855 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=168612</ExpertLink> |
| 38852 | ······<Name·lang="nl">Congenitale·deficiëntie·in·alfa-foetoproteïne</Name> | 38856 | ······<Name·lang="nl">Congenitale·deficiëntie·van·alfa-foetoproteïne</Name> |
| 38853 | ······<DisorderFlagList·count="1"> | 38857 | ······<DisorderFlagList·count="1"> |
| 38854 | ········<DisorderFlag·id="475"> | 38858 | ········<DisorderFlag·id="475"> |
| 38855 | ··········<Value>1</Value> | 38859 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 39631 | ······</ExternalReferenceList> | 39635 | ······</ExternalReferenceList> |
| 39632 | ······<DisorderDisorderAssociationList·count="0"> | 39636 | ······<DisorderDisorderAssociationList·count="0"> |
| 39633 | ······</DisorderDisorderAssociationList> | 39637 | ······</DisorderDisorderAssociationList> |
| 39634 | ······<SummaryInformationList·count="1"> | 39638 | ······<SummaryInformationList·count="0"> |
| 39635 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 39636 | ··········<TextSectionList·count="0"> | |
| 39637 | ··········</TextSectionList> | |
| 39638 | ··········<TextAuto> | |
| 39639 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 39640 | ··········</TextAuto> | |
| 39641 | ········</SummaryInformation> | |
| 39642 | ······</SummaryInformationList> | 39639 | ······</SummaryInformationList> |
| 39643 | ····</Disorder> | 39640 | ····</Disorder> |
| 39644 | ····<Disorder·id="446"> | 39641 | ····<Disorder·id="446"> |
| ⋮ | ⋮ |
| 39767 | ····<Disorder·id="17790"> | 39764 | ····<Disorder·id="17790"> |
| 39768 | ······<OrphaCode>168632</OrphaCode> | 39765 | ······<OrphaCode>168632</OrphaCode> |
| 39769 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=168632</ExpertLink> | 39766 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=168632</ExpertLink> |
| 39770 | ······<Name·lang="nl">Gegeneraliseerd·basaloïd·folliculair·hamartoomsyndroom</Name> | 39767 | ······<Name·lang="nl">Gegeneraliseerd·basaloïd·folliculair·hamartoom-syndroom</Name> |
| 39771 | ······<DisorderFlagList·count="1"> | 39768 | ······<DisorderFlagList·count="1"> |
| 39772 | ········<DisorderFlag·id="475"> | 39769 | ········<DisorderFlag·id="475"> |
| 39773 | ··········<Value>1</Value> | 39770 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 40735 | ········</DisorderFlag> | 40732 | ········</DisorderFlag> |
| 40736 | ······</DisorderFlagList> | 40733 | ······</DisorderFlagList> |
| 40737 | ······<SynonymList·count="1"> | 40734 | ······<SynonymList·count="1"> |
| 40738 | ········<Synonym·lang="nl">Akaba-Hayasakasyndroom</Synonym> | 40735 | ········<Synonym·lang="nl">Syndroom·van·Akaba-Hayasaka</Synonym> |
| 40739 | ······</SynonymList> | 40736 | ······</SynonymList> |
| 40740 | ······<DisorderType·id="21401"> | 40737 | ······<DisorderType·id="21401"> |
| 40741 | ········<Name·lang="nl">Malformatiesyndroom</Name> | 40738 | ········<Name·lang="nl">Malformatiesyndroom</Name> |
| ⋮ | ⋮ |
| 41464 | ··········<Label></Label> | 41461 | ··········<Label></Label> |
| 41465 | ········</DisorderFlag> | 41462 | ········</DisorderFlag> |
| 41466 | ······</DisorderFlagList> | 41463 | ······</DisorderFlagList> |
| 41467 | ······<SynonymList·count="5"> | 41464 | ······<SynonymList·count="6"> |
| 41468 | ········<Synonym·lang="nl">Anemie·van·Diamond-Blackfan</Synonym> | 41465 | ········<Synonym·lang="nl">Anemie·van·Diamond-Blackfan</Synonym> |
| 41469 | ········<Synonym·lang="nl">Congenitale·PRCA</Synonym> | 41466 | ········<Synonym·lang="nl">Congenitale·PRCA</Synonym> |
| 41470 | ········<Synonym·lang="nl">Congenitale·zuivere·rode·cel·aplasie</Synonym> | 41467 | ········<Synonym·lang="nl">Congenitale·zuivere·rode·cel·aplasie</Synonym> |
| | 41468 | ········<Synonym·lang="nl">Diamond-Blackfan·anemie</Synonym> |
| 41471 | ········<Synonym·lang="nl">Syndroom·van·Aase</Synonym> | 41469 | ········<Synonym·lang="nl">Syndroom·van·Aase</Synonym> |
| 41472 | ········<Synonym·lang="nl">Syndroom·van·Aase-Smith·II</Synonym> | 41470 | ········<Synonym·lang="nl">Syndroom·van·Aase-Smith·II</Synonym> |
| 41473 | ······</SynonymList> | 41471 | ······</SynonymList> |
| ⋮ | ⋮ |
| 42963 | ··············<TextSectionType·id="16907"> | 42961 | ··············<TextSectionType·id="16907"> |
| 42964 | ················<Name·lang="nl">Definitie·ziekte</Name> | 42962 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 42965 | ··············</TextSectionType> | 42963 | ··············</TextSectionType> |
| 42966 | ··············<Contents>Digito-talaire·dysmorfie,·ook·wel·bekend·als·distale·arthrogryposis·type·1·(DA1),·is·een·autosomaal·dominante·aangeboren·afwijking·die·gekenmerkt·wordt·door·contracturen·van·de·distale·gebieden·van·de·handen·en·voeten·zonder·betrokkenheid·van·het·gezicht·of·bijkomstige·afwijkingen.·Het·is·de·meest·voorkomende·vorm·van·distale·arthrogryposis·(zie·deze·term).</Contents> | 42964 | ··············<Contents>Een·vorm·van·artrogrypose,·gekarakteriseerd·door·contracturen·van·distale·delen·van·handen·en·voeten·in·afwezigheid·van·een·primaire·neurologische·en/of·musculaire·aandoening·die·de·functie·van·ledematen·aantast.·Betrokkenheid·van·aangezicht·blijft·beperkt·tot·kleine·mond·en·moeite·met·het·openen·van·de·mond.·Er·werden·geen·bijkomende·anomalieën·gerapporteerd.</Contents> |
| 42967 | ············</TextSection> | 42965 | ············</TextSection> |
| 42968 | ··········</TextSectionList> | 42966 | ··········</TextSectionList> |
| 42969 | ········</SummaryInformation> | 42967 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 43532 | ··············<TextSectionType·id="16907"> | 43530 | ··············<TextSectionType·id="16907"> |
| 43533 | ················<Name·lang="nl">Definitie·ziekte</Name> | 43531 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 43534 | ··············</TextSectionType> | 43532 | ··············</TextSectionType> |
| 43535 | ··············<Contents>Post-axiale·acrofaciale·dysostose·(POADS)·is·een·type·acrofaciale·dysostose·(zie·deze·term)·dat·gekarakteriseerd·wordt·door·hypoplasie·van·de·kaak-·en·jukbeenderen,·kleine·en·komvormige·oren,·ectropion·van·het·onderste·ooglid,·en·symmetrische·post-axiale·afwijkingen·aan·de·ledematen·met·afwezigheid·van·de·pink·en·hypoplasie·van·de·ulna·(ellepijp).</Contents> | 43533 | ··············<Contents>Een·zeldzame·acrofaciale·dysostose,·gekarakteriseerd·door·hypoplasie·van·onderkaak·en·jukbeen,·kleine·en·komvormige·oren,·ectropion·van·onderste·ooglid,·en·symmetrische·postaxiale·deficiënties·van·ledematen·met·afwezigheid·van·de·vijfde·stralen·en·hypoplasie·van·ulna.</Contents> |
| 43536 | ············</TextSection> | 43534 | ············</TextSection> |
| 43537 | ··········</TextSectionList> | 43535 | ··········</TextSectionList> |
| 43538 | ········</SummaryInformation> | 43536 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 44509 | ······</ExternalReferenceList> | 44507 | ······</ExternalReferenceList> |
| 44510 | ······<DisorderDisorderAssociationList·count="0"> | 44508 | ······<DisorderDisorderAssociationList·count="0"> |
| 44511 | ······</DisorderDisorderAssociationList> | 44509 | ······</DisorderDisorderAssociationList> |
| 44512 | ······<SummaryInformationList·count="1"> | 44510 | ······<SummaryInformationList·count="0"> |
| 44513 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 44514 | ··········<TextSectionList·count="0"> | |
| 44515 | ··········</TextSectionList> | |
| 44516 | ··········<TextAuto> | |
| 44517 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 44518 | ··········</TextAuto> | |
| 44519 | ········</SummaryInformation> | |
| 44520 | ······</SummaryInformationList> | 44511 | ······</SummaryInformationList> |
| 44521 | ····</Disorder> | 44512 | ····</Disorder> |
| 44522 | ····<Disorder·id="17682"> | 44513 | ····<Disorder·id="17682"> |
| ⋮ | ⋮ |
| 45060 | ····<Disorder·id="461"> | 45051 | ····<Disorder·id="461"> |
| 45061 | ······<OrphaCode>147</OrphaCode> | 45052 | ······<OrphaCode>147</OrphaCode> |
| 45062 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=147</ExpertLink> | 45053 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=147</ExpertLink> |
| 45063 | ······<Name·lang="nl">Carbamoylfosfaatsynthetase·1-deficiëntie</Name> | 45054 | ······<Name·lang="nl">Deficiëntie·van·carbamoylfosfaatsynthetase·1</Name> |
| 45064 | ······<DisorderFlagList·count="1"> | 45055 | ······<DisorderFlagList·count="1"> |
| 45065 | ········<DisorderFlag·id="475"> | 45056 | ········<DisorderFlag·id="475"> |
| 45066 | ··········<Value>1</Value> | 45057 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 45071 | ········<Synonym·lang="nl">CPS-deficiëntie</Synonym> | 45062 | ········<Synonym·lang="nl">CPS-deficiëntie</Synonym> |
| 45072 | ········<Synonym·lang="nl">CPS1-deficiëntie</Synonym> | 45063 | ········<Synonym·lang="nl">CPS1-deficiëntie</Synonym> |
| 45073 | ········<Synonym·lang="nl">CPS1D</Synonym> | 45064 | ········<Synonym·lang="nl">CPS1D</Synonym> |
| 45074 | ········<Synonym·lang="nl">Carbamoylfosfaatsynthasedeficiëntie</Synonym> | 45065 | ········<Synonym·lang="nl">Deficiëntie·van·carbamoylfosfaatsynthase</Synonym> |
| 45075 | ········<Synonym·lang="nl">Carbamoylfosfaatsynthetase·I-deficiëntie</Synonym> | 45066 | ········<Synonym·lang="nl">Deficiëntie·van·carbamoylfosfaatsynthetase</Synonym> |
| 45076 | ········<Synonym·lang="nl">Carbamoylfosfaatsynthetasedeficiëntie</Synonym> | 45067 | ········<Synonym·lang="nl">Deficiëntie·van·carbamoylfosfaatsynthetase·I</Synonym> |
| 45077 | ········<Synonym·lang="nl">Hyperammoniëmie·door·CPS-deficiëntie</Synonym> | 45068 | ········<Synonym·lang="nl">Hyperammoniëmie·door·CPS-deficiëntie</Synonym> |
| 45078 | ······</SynonymList> | 45069 | ······</SynonymList> |
| 45079 | ······<DisorderType·id="21394"> | 45070 | ······<DisorderType·id="21394"> |
| ⋮ | ⋮ |
| 45404 | ······</ExternalReferenceList> | 45395 | ······</ExternalReferenceList> |
| 45405 | ······<DisorderDisorderAssociationList·count="0"> | 45396 | ······<DisorderDisorderAssociationList·count="0"> |
| 45406 | ······</DisorderDisorderAssociationList> | 45397 | ······</DisorderDisorderAssociationList> |
| 45407 | ······<SummaryInformationList·count="1"> | 45398 | ······<SummaryInformationList·count="0"> |
| 45408 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 45409 | ··········<TextSectionList·count="0"> | |
| 45410 | ··········</TextSectionList> | |
| 45411 | ··········<TextAuto> | |
| 45412 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 45413 | ··········</TextAuto> | |
| 45414 | ········</SummaryInformation> | |
| 45415 | ······</SummaryInformationList> | 45399 | ······</SummaryInformationList> |
| 45416 | ····</Disorder> | 45400 | ····</Disorder> |
| 45417 | ····<Disorder·id="457"> | 45401 | ····<Disorder·id="457"> |
| ⋮ | ⋮ |
| 46637 | ····<Disorder·id="500"> | 46621 | ····<Disorder·id="500"> |
| 46638 | ······<OrphaCode>2113</OrphaCode> | 46622 | ······<OrphaCode>2113</OrphaCode> |
| 46639 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=2113</ExpertLink> | 46623 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=2113</ExpertLink> |
| 46640 | ······<Name·lang="nl">Congenitaal·hypothalamisch·hamartoomsyndroom</Name> | 46624 | ······<Name·lang="nl">Congenitaal·hamartoom·van·hypothalamus-syndroom</Name> |
| 46641 | ······<DisorderFlagList·count="3"> | 46625 | ······<DisorderFlagList·count="3"> |
| 46642 | ········<DisorderFlag·id="495"> | 46626 | ········<DisorderFlag·id="495"> |
| 46643 | ··········<Value>8192</Value> | 46627 | ··········<Value>8192</Value> |
| ⋮ | ⋮ |
| 46652 | ··········<Label></Label> | 46636 | ··········<Label></Label> |
| 46653 | ········</DisorderFlag> | 46637 | ········</DisorderFlag> |
| 46654 | ······</DisorderFlagList> | 46638 | ······</DisorderFlagList> |
| 46655 | ······<SynonymList·count="2"> | 46639 | ······<SynonymList·count="1"> |
| 46656 | ········<Synonym·lang="nl">CHHS</Synonym> | 46640 | ········<Synonym·lang="nl">CHHS</Synonym> |
| 46657 | ········<Synonym·lang="nl">Congenitaal·hamartoom·van·de·hypothalamus</Synonym> | |
| 46658 | ······</SynonymList> | 46641 | ······</SynonymList> |
| 46659 | ······<DisorderType·id="21401"> | 46642 | ······<DisorderType·id="21401"> |
| 46660 | ········<Name·lang="nl">Malformatiesyndroom</Name> | 46643 | ········<Name·lang="nl">Malformatiesyndroom</Name> |
| ⋮ | ⋮ |
| 46823 | ··········<Label></Label> | 46806 | ··········<Label></Label> |
| 46824 | ········</DisorderFlag> | 46807 | ········</DisorderFlag> |
| 46825 | ······</DisorderFlagList> | 46808 | ······</DisorderFlagList> |
| 46826 | ······<SynonymList·count="6"> | 46809 | ······<SynonymList·count="3"> |
| 46827 | ········<Synonym·lang="nl">4-HPPD-deficiëntie</Synonym> | 46810 | ········<Synonym·lang="nl">4-HPPD-deficiëntie</Synonym> |
| 46828 | ········<Synonym·lang="nl">4-alfa-hydroxyfenylpyruvaat-hydroxylasedeficiëntie</Synonym> | 46811 | ········<Synonym·lang="nl">Deficiëntie·van·4-alfa-hydroxyfenylpyruvaat-hydroxylase</Synonym> |
| 46829 | ········<Synonym·lang="nl">4-hydroxyfenylpyrodruivenzuur-dioxygenasedeficiëntie</Synonym> | 46812 | ········<Synonym·lang="nl">Deficiëntie·van·4-hydroxyfenylpyrodruivenzuur-dioxygenase</Synonym> |
| 46830 | ········<Synonym·lang="nl">4-hydroxyfenylpyrodruivenzuur-hydroxylasedeficiëntie</Synonym> | |
| 46831 | ········<Synonym·lang="nl">4-hydroxyfenylpyruvaat-dioxygenasedeficiëntie</Synonym> | |
| 46832 | ········<Synonym·lang="nl">4-hydroxyfenylpyruvaat-hydroxylasedeficiëntie</Synonym> | |
| 46833 | ······</SynonymList> | 46813 | ······</SynonymList> |
| 46834 | ······<DisorderType·id="21394"> | 46814 | ······<DisorderType·id="21394"> |
| 46835 | ········<Name·lang="nl">Ziekte</Name> | 46815 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 47293 | ····<Disorder·id="492"> | 47273 | ····<Disorder·id="492"> |
| 47294 | ······<OrphaCode>2005</OrphaCode> | 47274 | ······<OrphaCode>2005</OrphaCode> |
| 47295 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=2005</ExpertLink> | 47275 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=2005</ExpertLink> |
| 47296 | ······<Name·lang="nl">OBSOLEET:·Laryngo-tracheo-oesofageale·spleet·-·pulmonale·hypoplasie</Name> | 47276 | ······<Name·lang="nl">OBSOLEET:·Laryngo-tracheo-oesofageale·spleet·-·pulmonale·hypoplasie-syndroom</Name> |
| 47297 | ······<DisorderFlagList·count="2"> | 47277 | ······<DisorderFlagList·count="2"> |
| 47298 | ········<DisorderFlag·id="495"> | 47278 | ········<DisorderFlag·id="495"> |
| 47299 | ··········<Value>8192</Value> | 47279 | ··········<Value>8192</Value> |
| ⋮ | ⋮ |
| 47305 | ········</DisorderFlag> | 47285 | ········</DisorderFlag> |
| 47306 | ······</DisorderFlagList> | 47286 | ······</DisorderFlagList> |
| 47307 | ······<SynonymList·count="1"> | 47287 | ······<SynonymList·count="1"> |
| 47308 | ········<Synonym·lang="nl">Novaksyndroom</Synonym> | 47288 | ········<Synonym·lang="nl">Syndroom·van·Novak</Synonym> |
| 47309 | ······</SynonymList> | 47289 | ······</SynonymList> |
| 47310 | ······<DisorderType·id="21401"> | 47290 | ······<DisorderType·id="21401"> |
| 47311 | ········<Name·lang="nl">Malformatiesyndroom</Name> | 47291 | ········<Name·lang="nl">Malformatiesyndroom</Name> |
| ⋮ | ⋮ |
| 49404 | ······</ExternalReferenceList> | 49384 | ······</ExternalReferenceList> |
| 49405 | ······<DisorderDisorderAssociationList·count="0"> | 49385 | ······<DisorderDisorderAssociationList·count="0"> |
| 49406 | ······</DisorderDisorderAssociationList> | 49386 | ······</DisorderDisorderAssociationList> |
| 49407 | ······<SummaryInformationList·count="1"> | 49387 | ······<SummaryInformationList·count="0"> |
| 49408 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 49409 | ··········<TextSectionList·count="0"> | |
| 49410 | ··········</TextSectionList> | |
| 49411 | ··········<TextAuto> | |
| 49412 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 49413 | ··········</TextAuto> | |
| 49414 | ········</SummaryInformation> | |
| 49415 | ······</SummaryInformationList> | 49388 | ······</SummaryInformationList> |
| 49416 | ····</Disorder> | 49389 | ····</Disorder> |
| 49417 | ····<Disorder·id="18155"> | 49390 | ····<Disorder·id="18155"> |
| ⋮ | ⋮ |
| 50420 | ······</ExternalReferenceList> | 50393 | ······</ExternalReferenceList> |
| 50421 | ······<DisorderDisorderAssociationList·count="0"> | 50394 | ······<DisorderDisorderAssociationList·count="0"> |
| 50422 | ······</DisorderDisorderAssociationList> | 50395 | ······</DisorderDisorderAssociationList> |
| 50423 | ······<SummaryInformationList·count="1"> | 50396 | ······<SummaryInformationList·count="0"> |
| 50424 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 50425 | ··········<TextSectionList·count="0"> | |
| 50426 | ··········</TextSectionList> | |
| 50427 | ··········<TextAuto> | |
| 50428 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 50429 | ··········</TextAuto> | |
| 50430 | ········</SummaryInformation> | |
| 50431 | ······</SummaryInformationList> | 50397 | ······</SummaryInformationList> |
| 50432 | ····</Disorder> | 50398 | ····</Disorder> |
| 50433 | ····<Disorder·id="560"> | 50399 | ····<Disorder·id="560"> |
| ⋮ | ⋮ |
| 52485 | ······</ExternalReferenceList> | 52451 | ······</ExternalReferenceList> |
| 52486 | ······<DisorderDisorderAssociationList·count="0"> | 52452 | ······<DisorderDisorderAssociationList·count="0"> |
| 52487 | ······</DisorderDisorderAssociationList> | 52453 | ······</DisorderDisorderAssociationList> |
| 52488 | ······<SummaryInformationList·count="0"> | 52454 | ······<SummaryInformationList·count="1"> |
| | 52455 | ········<SummaryInformation·id="128986"·lang="nl"> |
| | 52456 | ··········<TextSectionList·count="1"> |
| | 52457 | ············<TextSection·id="167910"·lang="nl"> |
| | 52458 | ··············<TextSectionType·id="16907"> |
| | 52459 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 52460 | ··············</TextSectionType> |
| | 52461 | ··············<Contents>Een·zeldzame·maligne·kiemceltumor,·gekarakteriseerd·door·embryonale·lichaampjes·die·hoofdzakelijk·bestaan·uit·een·centrale·kern·van·embryonale·carcinoomcellen,·een·amnion-achtige·holte,·en·een·component·van·dooierzaktumor.·De·tumor·komt·meestal·voor·als·de·dominante·component·van·een·gemengde·kiemceltumor,·meestal·met·teratoom·als·geassocieerd·element.·Het·kan·zich·manifesteren·als·een·abdominale·massa·of·met·abdominale·pijn,·menstruele·onregelmatigheden,·of·vroegtijdige·puberteit·bij·vrouwen,·terwijl·mannen·zich·doorgaans·presenteren·met·vergroting·van·de·testikels.·Gehaltes·van·alfafoetoproteïne·en/of·bèta-humaan·choriongonadotrofine·in·serum·kunnen·verhoogd·zijn.</Contents> |
| | 52462 | ············</TextSection> |
| | 52463 | ··········</TextSectionList> |
| | 52464 | ········</SummaryInformation> |
| 52489 | ······</SummaryInformationList> | 52465 | ······</SummaryInformationList> |
| 52490 | ····</Disorder> | 52466 | ····</Disorder> |
| 52491 | ····<Disorder·id="527"> | 52467 | ····<Disorder·id="527"> |
| ⋮ | ⋮ |
| 52954 | ······</ExternalReferenceList> | 52930 | ······</ExternalReferenceList> |
| 52955 | ······<DisorderDisorderAssociationList·count="0"> | 52931 | ······<DisorderDisorderAssociationList·count="0"> |
| 52956 | ······</DisorderDisorderAssociationList> | 52932 | ······</DisorderDisorderAssociationList> |
| 52957 | ······<SummaryInformationList·count="0"> | 52933 | ······<SummaryInformationList·count="1"> |
| | 52934 | ········<SummaryInformation·id="129130"·lang="nl"> |
| | 52935 | ··········<TextSectionList·count="1"> |
| | 52936 | ············<TextSection·id="167983"·lang="nl"> |
| | 52937 | ··············<TextSectionType·id="16907"> |
| | 52938 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 52939 | ··············</TextSectionType> |
| | 52940 | ··············<Contents>Een·groep·van·zeldzame·tumoren·van·vagina·bestaande·uit·HPV-geassocieerd·en·HPV-onafhankelijk·plaveiselcelcarcinoom,·glandulaire·tumoren·(waaronder·HPV-geassocieerd·adenocarcinoom,·endometrioïd·carcinoom,·heldercellig·carcinoom,·gastrisch·type·en·intestinaal·type·mucineus·carcinoom,·en·mesonefrisch·adenocarcinoom),·adenocarcinoom·afkomstig·van·Skene-klieren,·adenosquameus·carcinoom,·en·adenoïd·basaalcelcarcinoom.·Afhankelijk·van·het·type·van·de·tumor·en·het·stadium·van·de·ziekte·kunnen·patiënten·zich·presenteren·met·symptomen·gerelateerd·aan·een·vaginale·massa,·vaginale·bloeding·en/of·afscheiding,·postcoïtale·bloeding,·urinaire·symptomen,·pijn·in·bekken,·en·een·gevoel·van·corpus·alienum·in·de·vagina.</Contents> |
| | 52941 | ············</TextSection> |
| | 52942 | ··········</TextSectionList> |
| | 52943 | ········</SummaryInformation> |
| 52958 | ······</SummaryInformationList> | 52944 | ······</SummaryInformationList> |
| 52959 | ····</Disorder> | 52945 | ····</Disorder> |
| 52960 | ····<Disorder·id="532"> | 52946 | ····<Disorder·id="532"> |
| ⋮ | ⋮ |
| 53528 | ······</ExternalReferenceList> | 53514 | ······</ExternalReferenceList> |
| 53529 | ······<DisorderDisorderAssociationList·count="0"> | 53515 | ······<DisorderDisorderAssociationList·count="0"> |
| 53530 | ······</DisorderDisorderAssociationList> | 53516 | ······</DisorderDisorderAssociationList> |
| 53531 | ······<SummaryInformationList·count="0"> | 53517 | ······<SummaryInformationList·count="1"> |
| | 53518 | ········<SummaryInformation·id="129003"·lang="nl"> |
| | 53519 | ··········<TextSectionList·count="1"> |
| | 53520 | ············<TextSection·id="167927"·lang="nl"> |
| | 53521 | ··············<TextSectionType·id="16907"> |
| | 53522 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 53523 | ··············</TextSectionType> |
| | 53524 | ··············<Contents>Een·zeldzame·kiemceltumor,·gekarakteriseerd·door·een·samenstelling·uit·twee·of·meer·componenten·ontstaan·uit·maligne·kiemcellen,·met·als·meest·gangbare·combinatie·dysgerminoom·en·dooierzaktumor.·De·tumoren·treden·doorgaans·op·tussen·de·kindertijd·en·jonge·volwassenheid.·Meestal·zijn·ze·gesitueerd·in·de·gonaden,·maar·soms·ook·in·andere·lichaamsdelen.·De·klinische·presentatie·stemt·overeen·met·de·individuele·componenten·afkomstig·van·kiemcellen·en·de·locatie·van·de·tumor;·mogelijke·manifestaties·zijn·onder·meer·abdominale·pijn,·abdominale·massa,·en·menstruatiestoornis·bij·vrouwen,·en·een·massa·van·testis·bij·mannen.·Het·stadium·van·de·tumor·is·de·belangrijkste·prognostische·factor.</Contents> |
| | 53525 | ············</TextSection> |
| | 53526 | ··········</TextSectionList> |
| | 53527 | ········</SummaryInformation> |
| 53532 | ······</SummaryInformationList> | 53528 | ······</SummaryInformationList> |
| 53533 | ····</Disorder> | 53529 | ····</Disorder> |
| 53534 | ····<Disorder·id="18129"> | 53530 | ····<Disorder·id="18129"> |
| 53535 | ······<OrphaCode>180237</OrphaCode> | 53531 | ······<OrphaCode>180237</OrphaCode> |
| 53536 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=180237</ExpertLink> | 53532 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=180237</ExpertLink> |
| 53537 | ······<Name·lang="nl">Goedaardige·tumor·van·de·eileider</Name> | 53533 | ······<Name·lang="nl">Goedaardige·tumor·van·eileider</Name> |
| 53538 | ······<DisorderFlagList·count="1"> | 53534 | ······<DisorderFlagList·count="1"> |
| 53539 | ········<DisorderFlag·id="475"> | 53535 | ········<DisorderFlag·id="475"> |
| 53540 | ··········<Value>1</Value> | 53536 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 53588 | ······</ExternalReferenceList> | 53584 | ······</ExternalReferenceList> |
| 53589 | ······<DisorderDisorderAssociationList·count="0"> | 53585 | ······<DisorderDisorderAssociationList·count="0"> |
| 53590 | ······</DisorderDisorderAssociationList> | 53586 | ······</DisorderDisorderAssociationList> |
| 53591 | ······<SummaryInformationList·count="0"> | 53587 | ······<SummaryInformationList·count="1"> |
| | 53588 | ········<SummaryInformation·id="129141"·lang="nl"> |
| | 53589 | ··········<TextSectionList·count="1"> |
| | 53590 | ············<TextSection·id="167994"·lang="nl"> |
| | 53591 | ··············<TextSectionType·id="16907"> |
| | 53592 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 53593 | ··············</TextSectionType> |
| | 53594 | ··············<Contents>Een·groep·van·zeldzame·adnexale·tumoren·van·uterus,·bestaande·uit·niet-metastaserende·neoplasmata·die·ontstaan·uit·eileider.·Dit·zijn·onder·meer·epitheliale·tumoren·(goedaardige·sereuze·tumoren·zoals·sereus·adenofibroom·en·papilloom)·en·rijpe·teratomen.·Patiënten·kunnen·asymptomatisch·of·zich·presenteren·met·obstructie·van·eileider.</Contents> |
| | 53595 | ············</TextSection> |
| | 53596 | ··········</TextSectionList> |
| | 53597 | ········</SummaryInformation> |
| 53592 | ······</SummaryInformationList> | 53598 | ······</SummaryInformationList> |
| 53593 | ····</Disorder> | 53599 | ····</Disorder> |
| 53594 | ····<Disorder·id="531"> | 53600 | ····<Disorder·id="531"> |
| ⋮ | ⋮ |
| 54694 | ········<DisorderDisorderAssociation> | 54700 | ········<DisorderDisorderAssociation> |
| 54695 | ··········<TargetDisorder·id="13906"> | 54701 | ··········<TargetDisorder·id="13906"> |
| 54696 | ············<OrphaCode>98889</OrphaCode> | 54702 | ············<OrphaCode>98889</OrphaCode> |
| 54697 | ············<Name·lang="nl">Bilaterale·perisylviaanse·polymicrogyrie</Name> | 54703 | ············<Name·lang="nl">Bilaterale·perisylvische·polymicrogyrie</Name> |
| 54698 | ··········</TargetDisorder> | 54704 | ··········</TargetDisorder> |
| 54699 | ··········<RootDisorder·id="536"·cycle="true"/> | 54705 | ··········<RootDisorder·id="536"·cycle="true"/> |
| 54700 | ··········<DisorderDisorderAssociationType·id="21471"> | 54706 | ··········<DisorderDisorderAssociationType·id="21471"> |
| ⋮ | ⋮ |
| 55114 | ··············<TextSectionType·id="16907"> | 55120 | ··············<TextSectionType·id="16907"> |
| 55115 | ················<Name·lang="nl">Definitie·ziekte</Name> | 55121 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 55116 | ··············</TextSectionType> | 55122 | ··············</TextSectionType> |
| 55117 | ··············<Contents>Fenylketonurie·(PKU)·is·de·meest·voorkomende·aangeboren·afwijking·van·het·aminozuurmetabolisme·en·wordt·gekenmerkt·door·milde·tot·ernstige·verstandelijke·handicap·bij·onbehandelde·patiënten.</Contents> | 55123 | ··············<Contents>Een·zeldzaam·aangeboren·defect·van·aminozuurmetabolisme,·gekarakteriseerd·door·verhoogd·gehalte·van·fenylalanine·in·bloed·en·lage·gehaltes·of·afwezigheid·van·het·enzym·fenylalaninehydroxylase.·Zonder·vroege·detectie·of·behandeling·manifesteert·de·aandoening·zich·met·milde·tot·ernstige·verstandelijke·beperking.</Contents> |
| 55118 | ············</TextSection> | 55124 | ············</TextSection> |
| 55119 | ··········</TextSectionList> | 55125 | ··········</TextSectionList> |
| 55120 | ········</SummaryInformation> | 55126 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 55853 | ··········<Label></Label> | 55859 | ··········<Label></Label> |
| 55854 | ········</DisorderFlag> | 55860 | ········</DisorderFlag> |
| 55855 | ······</DisorderFlagList> | 55861 | ······</DisorderFlagList> |
| 55856 | ······<SynonymList·count="0"> | 55862 | ······<SynonymList·count="1"> |
| | 55863 | ········<Synonym·lang="nl">Uterus·bicornis</Synonym> |
| 55857 | ······</SynonymList> | 55864 | ······</SynonymList> |
| 55858 | ······<DisorderType·id="21436"> | 55865 | ······<DisorderType·id="21436"> |
| 55859 | ········<Name·lang="nl">Group·of·phenomes</Name> | 55866 | ········<Name·lang="nl">Group·of·phenomes</Name> |
| ⋮ | ⋮ |
| 57621 | ··············<TextSectionType·id="16907"> | 57628 | ··············<TextSectionType·id="16907"> |
| 57622 | ················<Name·lang="nl">Definitie·ziekte</Name> | 57629 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 57623 | ··············</TextSectionType> | 57630 | ··············</TextSectionType> |
| 57624 | ··············<Contents>Fanconi-anemie·(FA)·is·een·erfelijke·stoornis·in·DNA-herstel·die·wordt·gekenmerkt·door·progressieve·pancytopenie·met·beenmergfalen,·variabele·congenitale·misvormingen·en·predispositie·om·hematologische·of·vaste·tumoren·te·ontwikkelen.</Contents> | 57631 | ··············<Contents>Een·zeldzame,·genetische·multisystemische·aandoening,·gekarakteriseerd·door·progressieve·pancytopenie·met·beenmergfalen,·variabele·congenitale·malformaties,·en·predispositie·voor·ontwikkeling·van·hematologische·of·solide·tumoren.</Contents> |
| 57625 | ············</TextSection> | 57632 | ············</TextSection> |
| 57626 | ··········</TextSectionList> | 57633 | ··········</TextSectionList> |
| 57627 | ········</SummaryInformation> | 57634 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 57630 | ····<Disorder·id="18104"> | 57637 | ····<Disorder·id="18104"> |
| 57631 | ······<OrphaCode>180154</OrphaCode> | 57638 | ······<OrphaCode>180154</OrphaCode> |
| 57632 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=180154</ExpertLink> | 57639 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=180154</ExpertLink> |
| 57633 | ······<Name·lang="nl">Vaginaal·septum</Name> | 57640 | ······<Name·lang="nl">Septum·van·vagina</Name> |
| 57634 | ······<DisorderFlagList·count="1"> | 57641 | ······<DisorderFlagList·count="1"> |
| 57635 | ········<DisorderFlag·id="475"> | 57642 | ········<DisorderFlag·id="475"> |
| 57636 | ··········<Value>1</Value> | 57643 | ··········<Value>1</Value> |
| 57637 | ··········<Label></Label> | 57644 | ··········<Label></Label> |
| 57638 | ········</DisorderFlag> | 57645 | ········</DisorderFlag> |
| 57639 | ······</DisorderFlagList> | 57646 | ······</DisorderFlagList> |
| 57640 | ······<SynonymList·count="0"> | 57647 | ······<SynonymList·count="1"> |
| | 57648 | ········<Synonym·lang="nl">Vaginaal·septum</Synonym> |
| 57641 | ······</SynonymList> | 57649 | ······</SynonymList> |
| 57642 | ······<DisorderType·id="21415"> | 57650 | ······<DisorderType·id="21415"> |
| 57643 | ········<Name·lang="nl">Morfologische·anomalie</Name> | 57651 | ········<Name·lang="nl">Morfologische·anomalie</Name> |
| ⋮ | ⋮ |
| 62125 | ····<Disorder·id="18018"> | 62133 | ····<Disorder·id="18018"> |
| 62126 | ······<OrphaCode>178345</OrphaCode> | 62134 | ······<OrphaCode>178345</OrphaCode> |
| 62127 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=178345</ExpertLink> | 62135 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=178345</ExpertLink> |
| 62128 | ······<Name·lang="nl">Aromataseovermaatsyndroom</Name> | 62136 | ······<Name·lang="nl">Syndroom·van·overmaat·aan·aromatase</Name> |
| 62129 | ······<DisorderFlagList·count="1"> | 62137 | ······<DisorderFlagList·count="1"> |
| 62130 | ········<DisorderFlag·id="475"> | 62138 | ········<DisorderFlag·id="475"> |
| 62131 | ··········<Value>1</Value> | 62139 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 62391 | ····<Disorder·id="673"> | 62399 | ····<Disorder·id="673"> |
| 62392 | ······<OrphaCode>3137</OrphaCode> | 62400 | ······<OrphaCode>3137</OrphaCode> |
| 62393 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=3137</ExpertLink> | 62401 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=3137</ExpertLink> |
| 62394 | ······<Name·lang="nl">Alfa-N-acetylgalactosaminidasedeficiëntie</Name> | 62402 | ······<Name·lang="nl">Deficiëntie·van·alfa-N-acetylgalactosaminidase</Name> |
| 62395 | ······<DisorderFlagList·count="1"> | 62403 | ······<DisorderFlagList·count="1"> |
| 62396 | ········<DisorderFlag·id="475"> | 62404 | ········<DisorderFlag·id="475"> |
| 62397 | ··········<Value>1</Value> | 62405 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 66487 | ····<Disorder·id="18013"> | 66495 | ····<Disorder·id="18013"> |
| 66488 | ······<OrphaCode>178320</OrphaCode> | 66496 | ······<OrphaCode>178320</OrphaCode> |
| 66489 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=178320</ExpertLink> | 66497 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=178320</ExpertLink> |
| 66490 | ······<Name·lang="nl">Acuut·longletsel</Name> | 66498 | ······<Name·lang="nl">Acuut·letsel·van·long</Name> |
| 66491 | ······<DisorderFlagList·count="1"> | 66499 | ······<DisorderFlagList·count="1"> |
| 66492 | ········<DisorderFlag·id="475"> | 66500 | ········<DisorderFlag·id="475"> |
| 66493 | ··········<Value>1</Value> | 66501 | ··········<Value>1</Value> |
| 66494 | ··········<Label></Label> | 66502 | ··········<Label></Label> |
| 66495 | ········</DisorderFlag> | 66503 | ········</DisorderFlag> |
| 66496 | ······</DisorderFlagList> | 66504 | ······</DisorderFlagList> |
| 66497 | ······<SynonymList·count="0"> | 66505 | ······<SynonymList·count="1"> |
| | 66506 | ········<Synonym·lang="nl">Acuut·longletsel</Synonym> |
| 66498 | ······</SynonymList> | 66507 | ······</SynonymList> |
| 66499 | ······<DisorderType·id="21429"> | 66508 | ······<DisorderType·id="21429"> |
| 66500 | ········<Name·lang="nl">Particulaire·klinische·situatie·binnen·een·ziekte·of·syndroom</Name> | 66509 | ········<Name·lang="nl">Particulaire·klinische·situatie·binnen·een·ziekte·of·syndroom</Name> |
| ⋮ | ⋮ |
| 66595 | ······</DisorderFlagList> | 66604 | ······</DisorderFlagList> |
| 66596 | ······<SynonymList·count="3"> | 66605 | ······<SynonymList·count="3"> |
| 66597 | ········<Synonym·lang="nl">AIED</Synonym> | 66606 | ········<Synonym·lang="nl">AIED</Synonym> |
| 66598 | ········<Synonym·lang="nl">Forsius-Erikssonsyndroom</Synonym> | |
| 66599 | ········<Synonym·lang="nl">Oculair·albinisme,·Forsius-Eriksson-type</Synonym> | 66607 | ········<Synonym·lang="nl">Oculair·albinisme,·Forsius-Eriksson-type</Synonym> |
| | 66608 | ········<Synonym·lang="nl">Syndroom·van·Forsius-Eriksson</Synonym> |
| 66600 | ······</SynonymList> | 66609 | ······</SynonymList> |
| 66601 | ······<DisorderType·id="21394"> | 66610 | ······<DisorderType·id="21394"> |
| 66602 | ········<Name·lang="nl">Ziekte</Name> | 66611 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 66712 | ····<Disorder·id="671"> | 66721 | ····<Disorder·id="671"> |
| 66713 | ······<OrphaCode>760</OrphaCode> | 66722 | ······<OrphaCode>760</OrphaCode> |
| 66714 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=760</ExpertLink> | 66723 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=760</ExpertLink> |
| 66715 | ······<Name·lang="nl">Purinenucleosidefosforylasedeficiëntie</Name> | 66724 | ······<Name·lang="nl">Deficiëntie·van·purinenucleosidefosforylase</Name> |
| 66716 | ······<DisorderFlagList·count="1"> | 66725 | ······<DisorderFlagList·count="1"> |
| 66717 | ········<DisorderFlag·id="475"> | 66726 | ········<DisorderFlag·id="475"> |
| 66718 | ··········<Value>1</Value> | 66727 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 66945 | ····<Disorder·id="18009"> | 66954 | ····<Disorder·id="18009"> |
| 66946 | ······<OrphaCode>178303</OrphaCode> | 66955 | ······<OrphaCode>178303</OrphaCode> |
| 66947 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=178303</ExpertLink> | 66956 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=178303</ExpertLink> |
| 66948 | ······<Name·lang="nl">8q22.1·microdeletiesyndroom</Name> | 66957 | ······<Name·lang="nl">8q22.1-microdeletiesyndroom</Name> |
| 66949 | ······<DisorderFlagList·count="1"> | 66958 | ······<DisorderFlagList·count="1"> |
| 66950 | ········<DisorderFlag·id="475"> | 66959 | ········<DisorderFlag·id="475"> |
| 66951 | ··········<Value>1</Value> | 66960 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 67925 | ··········<Label></Label> | 67934 | ··········<Label></Label> |
| 67926 | ········</DisorderFlag> | 67935 | ········</DisorderFlag> |
| 67927 | ······</DisorderFlagList> | 67936 | ······</DisorderFlagList> |
| 67928 | ······<SynonymList·count="3"> | 67937 | ······<SynonymList·count="2"> |
| 67929 | ········<Synonym·lang="nl">Bournevillesyndroom</Synonym> | 67938 | ········<Synonym·lang="nl">Syndroom·van·Bourneville</Synonym> |
| 67930 | ········<Synonym·lang="nl">Tubereuze·sclerose</Synonym> | 67939 | ········<Synonym·lang="nl">Tubereuze·sclerose</Synonym> |
| 67931 | ········<Synonym·lang="nl">Tubereuze·sclerosis</Synonym> | |
| 67932 | ······</SynonymList> | 67940 | ······</SynonymList> |
| 67933 | ······<DisorderType·id="21394"> | 67941 | ······<DisorderType·id="21394"> |
| 67934 | ········<Name·lang="nl">Ziekte</Name> | 67942 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 69145 | ······</ExternalReferenceList> | 69153 | ······</ExternalReferenceList> |
| 69146 | ······<DisorderDisorderAssociationList·count="0"> | 69154 | ······<DisorderDisorderAssociationList·count="0"> |
| 69147 | ······</DisorderDisorderAssociationList> | 69155 | ······</DisorderDisorderAssociationList> |
| 69148 | ······<SummaryInformationList·count="1"> | 69156 | ······<SummaryInformationList·count="0"> |
| 69149 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 69150 | ··········<TextSectionList·count="0"> | |
| 69151 | ··········</TextSectionList> | |
| 69152 | ··········<TextAuto> | |
| 69153 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 69154 | ··········</TextAuto> | |
| 69155 | ········</SummaryInformation> | |
| 69156 | ······</SummaryInformationList> | 69157 | ······</SummaryInformationList> |
| 69157 | ····</Disorder> | 69158 | ····</Disorder> |
| 69158 | ····<Disorder·id="659"> | 69159 | ····<Disorder·id="659"> |
| ⋮ | ⋮ |
| 71384 | ······</ExternalReferenceList> | 71385 | ······</ExternalReferenceList> |
| 71385 | ······<DisorderDisorderAssociationList·count="0"> | 71386 | ······<DisorderDisorderAssociationList·count="0"> |
| 71386 | ······</DisorderDisorderAssociationList> | 71387 | ······</DisorderDisorderAssociationList> |
| 71387 | ······<SummaryInformationList·count="1"> | 71388 | ······<SummaryInformationList·count="0"> |
| 71388 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 71389 | ··········<TextSectionList·count="0"> | |
| 71390 | ··········</TextSectionList> | |
| 71391 | ··········<TextAuto> | |
| 71392 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 71393 | ··········</TextAuto> | |
| 71394 | ········</SummaryInformation> | |
| 71395 | ······</SummaryInformationList> | 71389 | ······</SummaryInformationList> |
| 71396 | ····</Disorder> | 71390 | ····</Disorder> |
| 71397 | ····<Disorder·id="738"> | 71391 | ····<Disorder·id="738"> |
| ⋮ | ⋮ |
| 71870 | ······</ExternalReferenceList> | 71864 | ······</ExternalReferenceList> |
| 71871 | ······<DisorderDisorderAssociationList·count="0"> | 71865 | ······<DisorderDisorderAssociationList·count="0"> |
| 71872 | ······</DisorderDisorderAssociationList> | 71866 | ······</DisorderDisorderAssociationList> |
| 71873 | ······<SummaryInformationList·count="1"> | 71867 | ······<SummaryInformationList·count="0"> |
| 71874 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 71875 | ··········<TextSectionList·count="0"> | |
| 71876 | ··········</TextSectionList> | |
| 71877 | ··········<TextAuto> | |
| 71878 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 71879 | ··········</TextAuto> | |
| 71880 | ········</SummaryInformation> | |
| 71881 | ······</SummaryInformationList> | 71868 | ······</SummaryInformationList> |
| 71882 | ····</Disorder> | 71869 | ····</Disorder> |
| 71883 | ····<Disorder·id="741"> | 71870 | ····<Disorder·id="741"> |
| ⋮ | ⋮ |
| 72120 | ····<Disorder·id="763"> | 72107 | ····<Disorder·id="763"> |
| 72121 | ······<OrphaCode>46</OrphaCode> | 72108 | ······<OrphaCode>46</OrphaCode> |
| 72122 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=46</ExpertLink> | 72109 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=46</ExpertLink> |
| 72123 | ······<Name·lang="nl">Adenylosuccinaatlyasedeficiëntie</Name> | 72110 | ······<Name·lang="nl">Deficiëntie·van·adenylosuccinaatlyase</Name> |
| 72124 | ······<DisorderFlagList·count="1"> | 72111 | ······<DisorderFlagList·count="1"> |
| 72125 | ········<DisorderFlag·id="475"> | 72112 | ········<DisorderFlag·id="475"> |
| 72126 | ··········<Value>1</Value> | 72113 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 72129 | ······</DisorderFlagList> | 72116 | ······</DisorderFlagList> |
| 72130 | ······<SynonymList·count="2"> | 72117 | ······<SynonymList·count="2"> |
| 72131 | ········<Synonym·lang="nl">ADSL-deficiëntie</Synonym> | 72118 | ········<Synonym·lang="nl">ADSL-deficiëntie</Synonym> |
| 72132 | ········<Synonym·lang="nl">Adenylosuccinasedeficiëntie</Synonym> | 72119 | ········<Synonym·lang="nl">Deficiëntie·van·adenylosuccinase</Synonym> |
| 72133 | ······</SynonymList> | 72120 | ······</SynonymList> |
| 72134 | ······<DisorderType·id="21394"> | 72121 | ······<DisorderType·id="21394"> |
| 72135 | ········<Name·lang="nl">Ziekte</Name> | 72122 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 73808 | ····<Disorder·id="17931"> | 73795 | ····<Disorder·id="17931"> |
| 73809 | ······<OrphaCode>171706</OrphaCode> | 73796 | ······<OrphaCode>171706</OrphaCode> |
| 73810 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=171706</ExpertLink> | 73797 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=171706</ExpertLink> |
| 73811 | ······<Name·lang="nl">Kleine·gestalte·-·uitgestelde·botleeftijd·door·schildklierhormoonmetabolismedeficiëntie</Name> | 73798 | ······<Name·lang="nl">Kleine·gestalte·-·vertraagde·botleeftijd·door·deficiëntie·in·schildklierhormoonmetabolisme</Name> |
| 73812 | ······<DisorderFlagList·count="1"> | 73799 | ······<DisorderFlagList·count="1"> |
| 73813 | ········<DisorderFlag·id="475"> | 73800 | ········<DisorderFlag·id="475"> |
| 73814 | ··········<Value>1</Value> | 73801 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 76572 | ····<Disorder·id="17950"> | 76559 | ····<Disorder·id="17950"> |
| 76573 | ······<OrphaCode>171886</OrphaCode> | 76560 | ······<OrphaCode>171886</OrphaCode> |
| 76574 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=171886</ExpertLink> | 76561 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=171886</ExpertLink> |
| 76575 | ······<Name·lang="nl">Cilindervormige·spiralen·myopathie</Name> | 76562 | ······<Name·lang="nl">Myopathie·met·cilindrische·spiralen</Name> |
| 76576 | ······<DisorderFlagList·count="1"> | 76563 | ······<DisorderFlagList·count="1"> |
| 76577 | ········<DisorderFlag·id="475"> | 76564 | ········<DisorderFlag·id="475"> |
| 76578 | ··········<Value>1</Value> | 76565 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 79123 | ········</DisorderFlag> | 79110 | ········</DisorderFlag> |
| 79124 | ······</DisorderFlagList> | 79111 | ······</DisorderFlagList> |
| 79125 | ······<SynonymList·count="2"> | 79112 | ······<SynonymList·count="2"> |
| 79126 | ········<Synonym·lang="nl">Auto-immune·hemolytische·anemie·en·auto-immune·trombocytopenie</Synonym> | 79113 | ········<Synonym·lang="nl">Auto-immuun·hemolytische·anemie·en·auto-immuun·trombocytopenie</Synonym> |
| 79127 | ········<Synonym·lang="nl">Immune·pancytopenie</Synonym> | 79114 | ········<Synonym·lang="nl">Immuun·pancytopenie</Synonym> |
| 79128 | ······</SynonymList> | 79115 | ······</SynonymList> |
| 79129 | ······<DisorderType·id="21394"> | 79116 | ······<DisorderType·id="21394"> |
| 79130 | ········<Name·lang="nl">Ziekte</Name> | 79117 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 79317 | ····<Disorder·id="825"> | 79304 | ····<Disorder·id="825"> |
| 79318 | ······<OrphaCode>1177</OrphaCode> | 79305 | ······<OrphaCode>1177</OrphaCode> |
| 79319 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=1177</ExpertLink> | 79306 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=1177</ExpertLink> |
| 79320 | ······<Name·lang="nl">Vroeg·beginnende·cerebellaire·ataxie·met·behoud·van·peesreflexen</Name> | 79307 | ······<Name·lang="nl">Vroeg·optredende·cerebellaire·ataxie·met·behoud·van·peesreflexen</Name> |
| 79321 | ······<DisorderFlagList·count="1"> | 79308 | ······<DisorderFlagList·count="1"> |
| 79322 | ········<DisorderFlag·id="475"> | 79309 | ········<DisorderFlag·id="475"> |
| 79323 | ··········<Value>1</Value> | 79310 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 79325 | ········</DisorderFlag> | 79312 | ········</DisorderFlag> |
| 79326 | ······</DisorderFlagList> | 79313 | ······</DisorderFlagList> |
| 79327 | ······<SynonymList·count="3"> | 79314 | ······<SynonymList·count="3"> |
| | 79315 | ········<Synonym·lang="nl">Ataxie·van·Harding</Synonym> |
| 79328 | ········<Synonym·lang="nl">EOCA</Synonym> | 79316 | ········<Synonym·lang="nl">EOCA</Synonym> |
| 79329 | ········<Synonym·lang="nl">EOCARR</Synonym> | 79317 | ········<Synonym·lang="nl">EOCARR</Synonym> |
| 79330 | ········<Synonym·lang="nl">Hardingataxie</Synonym> | |
| 79331 | ······</SynonymList> | 79318 | ······</SynonymList> |
| 79332 | ······<DisorderType·id="21394"> | 79319 | ······<DisorderType·id="21394"> |
| 79333 | ········<Name·lang="nl">Ziekte</Name> | 79320 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 80680 | ······</ExternalReferenceList> | 80667 | ······</ExternalReferenceList> |
| 80681 | ······<DisorderDisorderAssociationList·count="0"> | 80668 | ······<DisorderDisorderAssociationList·count="0"> |
| 80682 | ······</DisorderDisorderAssociationList> | 80669 | ······</DisorderDisorderAssociationList> |
| 80683 | ······<SummaryInformationList·count="0"> | 80670 | ······<SummaryInformationList·count="1"> |
| | 80671 | ········<SummaryInformation·id="129005"·lang="nl"> |
| | 80672 | ··········<TextSectionList·count="1"> |
| | 80673 | ············<TextSection·id="167929"·lang="nl"> |
| | 80674 | ··············<TextSectionType·id="16907"> |
| | 80675 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 80676 | ··············</TextSectionType> |
| | 80677 | ··············<Contents>Een·zeldzame·tumor·van·nier,·gekarakteriseerd·door·een·unilateraal,·solitair,·goed·begrensd,·mesenchymaal/myofibroblastisch·neoplasma·dat·optreedt·bij·zeer·jonge·kinderen.·Histopathologisch·kunnen·drie·subtypes·(klassiek,·cellulair,·en·gemengd)·onderscheiden·worden.·De·tumor·treft·doorgaans·de·sinus·renalis·en·wordt·meestal·ontdekt·als·een·palpabele·abdominale·massa.·Patiënten·kunnen·zich·ook·presenteren·met·hypertensie·of·hematurie,·en·in·zeldzame·gevallen·met·hypercalciëmie·of·hyperreninemie.·Prenatale·presentatie,·meestal·met·polyhydramnion,·komt·maar·weinig·voor.·De·belangrijkste·prognostische·factor·is·de·volledigheid·van·chirurgische·excisie.·Algemeen·genomen·is·het·maligne·potentieel·laag·en·de·klinische·uitkomst·gunstig.</Contents> |
| | 80678 | ············</TextSection> |
| | 80679 | ··········</TextSectionList> |
| | 80680 | ········</SummaryInformation> |
| 80684 | ······</SummaryInformationList> | 80681 | ······</SummaryInformationList> |
| 80685 | ····</Disorder> | 80682 | ····</Disorder> |
| 80686 | ····<Disorder·id="812"> | 80683 | ····<Disorder·id="812"> |
| ⋮ | ⋮ |
| 82121 | ····<Disorder·id="18389"> | 82118 | ····<Disorder·id="18389"> |
| 82122 | ······<OrphaCode>199285</OrphaCode> | 82119 | ······<OrphaCode>199285</OrphaCode> |
| 82123 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=199285</ExpertLink> | 82120 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=199285</ExpertLink> |
| 82124 | ······<Name·lang="nl">Erfelijke·hypercarotenemie·en·vitamine·A-deficiëntie</Name> | 82121 | ······<Name·lang="nl">Hereditaire·hypercarotenemie·en·vitamine·A-deficiëntie</Name> |
| 82125 | ······<DisorderFlagList·count="1"> | 82122 | ······<DisorderFlagList·count="1"> |
| 82126 | ········<DisorderFlag·id="475"> | 82123 | ········<DisorderFlag·id="475"> |
| 82127 | ··········<Value>1</Value> | 82124 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 84520 | ····<Disorder·id="18373"> | 84517 | ····<Disorder·id="18373"> |
| 84521 | ······<OrphaCode>189424</OrphaCode> | 84518 | ······<OrphaCode>189424</OrphaCode> |
| 84522 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=189424</ExpertLink> | 84519 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=189424</ExpertLink> |
| 84523 | ······<Name·lang="nl">OBSOLEET:·ACTH-onafhankelijk·Cushingsyndroom·door·bilaterale·adrenocorticale·hyperplasie</Name> | 84520 | ······<Name·lang="nl">OBSOLEET:·ACTH-onafhankelijk·syndroom·van·Cushing·door·bilaterale·adrenocorticale·hyperplasie</Name> |
| 84524 | ······<DisorderFlagList·count="2"> | 84521 | ······<DisorderFlagList·count="2"> |
| 84525 | ········<DisorderFlag·id="495"> | 84522 | ········<DisorderFlag·id="495"> |
| 84526 | ··········<Value>8192</Value> | 84523 | ··········<Value>8192</Value> |
| ⋮ | ⋮ |
| 84532 | ········</DisorderFlag> | 84529 | ········</DisorderFlag> |
| 84533 | ······</DisorderFlagList> | 84530 | ······</DisorderFlagList> |
| 84534 | ······<SynonymList·count="1"> | 84531 | ······<SynonymList·count="1"> |
| 84535 | ········<Synonym·lang="nl">ACTH-onafhankelijk·Cushingsyndroom·door·bilaterale·bijnierschorshyperplasie</Synonym> | 84532 | ········<Synonym·lang="nl">ACTH-onafhankelijk·syndroom·van·Cushing·door·bilaterale·bijnierschorshyperplasie</Synonym> |
| 84536 | ······</SynonymList> | 84533 | ······</SynonymList> |
| 84537 | ······<DisorderType·id="36561"> | 84534 | ······<DisorderType·id="36561"> |
| 84538 | ········<Name·lang="nl">Category</Name> | 84535 | ········<Name·lang="nl">Category</Name> |
| ⋮ | ⋮ |
| 90036 | ····<Disorder·id="857"> | 90033 | ····<Disorder·id="857"> |
| 90037 | ······<OrphaCode>2587</OrphaCode> | 90034 | ······<OrphaCode>2587</OrphaCode> |
| 90038 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=2587</ExpertLink> | 90035 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=2587</ExpertLink> |
| 90039 | ······<Name·lang="nl">Myeloperoxidasedeficiëntie</Name> | 90036 | ······<Name·lang="nl">Deficiëntie·van·myeloperoxidase</Name> |
| 90040 | ······<DisorderFlagList·count="1"> | 90037 | ······<DisorderFlagList·count="1"> |
| 90041 | ········<DisorderFlag·id="475"> | 90038 | ········<DisorderFlag·id="475"> |
| 90042 | ··········<Value>1</Value> | 90039 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 96742 | ········<Synonym·lang="nl">FH1</Synonym> | 96739 | ········<Synonym·lang="nl">FH1</Synonym> |
| 96743 | ········<Synonym·lang="nl">Familiaal·hyperaldosteronisme·type·1</Synonym> | 96740 | ········<Synonym·lang="nl">Familiaal·hyperaldosteronisme·type·1</Synonym> |
| 96744 | ········<Synonym·lang="nl">GRA</Synonym> | 96741 | ········<Synonym·lang="nl">GRA</Synonym> |
| 96745 | ········<Synonym·lang="nl">Glucocorticoïdegevoelige·hypertensie</Synonym> | 96742 | ········<Synonym·lang="nl">Glucocorticoïdgevoelige·hypertensie</Synonym> |
| 96746 | ········<Synonym·lang="nl">Glucocorticoïdeherstelbaar·aldosteronisme</Synonym> | 96743 | ········<Synonym·lang="nl">Glucocorticoïdherstelbaar·aldosteronisme</Synonym> |
| 96747 | ······</SynonymList> | 96744 | ······</SynonymList> |
| 96748 | ······<DisorderType·id="21394"> | 96745 | ······<DisorderType·id="21394"> |
| 96749 | ········<Name·lang="nl">Ziekte</Name> | 96746 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 97118 | ······</ExternalReferenceList> | 97115 | ······</ExternalReferenceList> |
| 97119 | ······<DisorderDisorderAssociationList·count="0"> | 97116 | ······<DisorderDisorderAssociationList·count="0"> |
| 97120 | ······</DisorderDisorderAssociationList> | 97117 | ······</DisorderDisorderAssociationList> |
| 97121 | ······<SummaryInformationList·count="1"> | 97118 | ······<SummaryInformationList·count="0"> |
| 97122 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 97123 | ··········<TextSectionList·count="0"> | |
| 97124 | ··········</TextSectionList> | |
| 97125 | ··········<TextAuto> | |
| 97126 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 97127 | ··········</TextAuto> | |
| 97128 | ········</SummaryInformation> | |
| 97129 | ······</SummaryInformationList> | 97119 | ······</SummaryInformationList> |
| 97130 | ····</Disorder> | 97120 | ····</Disorder> |
| 97131 | ····<Disorder·id="906"> | 97121 | ····<Disorder·id="906"> |
| ⋮ | ⋮ |
| 97758 | ····<Disorder·id="901"> | 97748 | ····<Disorder·id="901"> |
| 97759 | ······<OrphaCode>157</OrphaCode> | 97749 | ······<OrphaCode>157</OrphaCode> |
| 97760 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=157</ExpertLink> | 97750 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=157</ExpertLink> |
| 97761 | ······<Name·lang="nl">Carnitinepalmitoyltransferase·II-deficiëntie</Name> | 97751 | ······<Name·lang="nl">Deficiëntie·van·carnitinepalmitoyltransferase·II</Name> |
| 97762 | ······<DisorderFlagList·count="1"> | 97752 | ······<DisorderFlagList·count="1"> |
| 97763 | ········<DisorderFlag·id="475"> | 97753 | ········<DisorderFlag·id="475"> |
| 97764 | ··········<Value>1</Value> | 97754 | ··········<Value>1</Value> |
| 97765 | ··········<Label></Label> | 97755 | ··········<Label></Label> |
| 97766 | ········</DisorderFlag> | 97756 | ········</DisorderFlag> |
| 97767 | ······</DisorderFlagList> | 97757 | ······</DisorderFlagList> |
| 97768 | ······<SynonymList·count="3"> | 97758 | ······<SynonymList·count="4"> |
| 97769 | ········<Synonym·lang="nl">CPT2</Synonym> | 97759 | ········<Synonym·lang="nl">CPT2</Synonym> |
| 97770 | ········<Synonym·lang="nl">CPTII</Synonym> | 97760 | ········<Synonym·lang="nl">CPTII</Synonym> |
| 97771 | ········<Synonym·lang="nl">Carnitinepalmitoyltransferasedeficiëntie·type·2</Synonym> | 97761 | ········<Synonym·lang="nl">Carnitinepalmitoyltransferase-II-deficiëntie</Synonym> |
| | 97762 | ········<Synonym·lang="nl">Deficiëntie·van·carnitinepalmitoyltransferase·type·2</Synonym> |
| 97772 | ······</SynonymList> | 97763 | ······</SynonymList> |
| 97773 | ······<DisorderType·id="21394"> | 97764 | ······<DisorderType·id="21394"> |
| 97774 | ········<Name·lang="nl">Ziekte</Name> | 97765 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 100104 | ······</DisorderFlagList> | 100095 | ······</DisorderFlagList> |
| 100105 | ······<SynonymList·count="5"> | 100096 | ······<SynonymList·count="5"> |
| 100106 | ········<Synonym·lang="nl">BSCL</Synonym> | 100097 | ········<Synonym·lang="nl">BSCL</Synonym> |
| | 100098 | ········<Synonym·lang="nl">CGL</Synonym> |
| 100107 | ········<Synonym·lang="nl">Congenitale·lipodystrofie·van·Berardinelli-Seip</Synonym> | 100099 | ········<Synonym·lang="nl">Congenitale·lipodystrofie·van·Berardinelli-Seip</Synonym> |
| 100108 | ········<Synonym·lang="nl">GCL</Synonym> | |
| 100109 | ········<Synonym·lang="nl">Lipoatrofische·diabetes</Synonym> | 100100 | ········<Synonym·lang="nl">Lipoatrofische·diabetes</Synonym> |
| 100110 | ········<Synonym·lang="nl">Syndroom·van·Beradinelli-Seip</Synonym> | 100101 | ········<Synonym·lang="nl">Syndroom·van·Beradinelli-Seip</Synonym> |
| 100111 | ······</SynonymList> | 100102 | ······</SynonymList> |
| ⋮ | ⋮ |
| 100240 | ··········</DisorderDisorderAssociationType> | 100231 | ··········</DisorderDisorderAssociationType> |
| 100241 | ········</DisorderDisorderAssociation> | 100232 | ········</DisorderDisorderAssociation> |
| 100242 | ······</DisorderDisorderAssociationList> | 100233 | ······</DisorderDisorderAssociationList> |
| 100243 | ······<SummaryInformationList·count="0"> | 100234 | ······<SummaryInformationList·count="1"> |
| | 100235 | ········<SummaryInformation·id="129159"·lang="nl"> |
| | 100236 | ··········<TextSectionList·count="1"> |
| | 100237 | ············<TextSection·id="168105"·lang="nl"> |
| | 100238 | ··············<TextSectionType·id="16907"> |
| | 100239 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 100240 | ··············</TextSectionType> |
| | 100241 | ··············<Contents>Een·zeldzame·autosomaal·recessieve·vorm·van·lipodystrofie,·gekarakteriseerd·door·de·associatie·van·gegeneraliseerde·lipoatrofie·met·acromegaloïde·kenmerken,·spierhypertrofie,·insulineresistentie,·hypertriglyceridemie,·en·leversteatose.</Contents> |
| | 100242 | ············</TextSection> |
| | 100243 | ··········</TextSectionList> |
| | 100244 | ········</SummaryInformation> |
| 100244 | ······</SummaryInformationList> | 100245 | ······</SummaryInformationList> |
| 100245 | ····</Disorder> | 100246 | ····</Disorder> |
| 100246 | ····<Disorder·id="18223"> | 100247 | ····<Disorder·id="18223"> |
| ⋮ | ⋮ |
| 101269 | ······</ExternalReferenceList> | 101270 | ······</ExternalReferenceList> |
| 101270 | ······<DisorderDisorderAssociationList·count="0"> | 101271 | ······<DisorderDisorderAssociationList·count="0"> |
| 101271 | ······</DisorderDisorderAssociationList> | 101272 | ······</DisorderDisorderAssociationList> |
| 101272 | ······<SummaryInformationList·count="1"> | 101273 | ······<SummaryInformationList·count="0"> |
| 101273 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 101274 | ··········<TextSectionList·count="0"> | |
| 101275 | ··········</TextSectionList> | |
| 101276 | ··········<TextAuto> | |
| 101277 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 101278 | ··········</TextAuto> | |
| 101279 | ········</SummaryInformation> | |
| 101280 | ······</SummaryInformationList> | 101274 | ······</SummaryInformationList> |
| 101281 | ····</Disorder> | 101275 | ····</Disorder> |
| 101282 | ····<Disorder·id="18202"> | 101276 | ····<Disorder·id="18202"> |
| ⋮ | ⋮ |
| 101995 | ······</ExternalReferenceList> | 101989 | ······</ExternalReferenceList> |
| 101996 | ······<DisorderDisorderAssociationList·count="0"> | 101990 | ······<DisorderDisorderAssociationList·count="0"> |
| 101997 | ······</DisorderDisorderAssociationList> | 101991 | ······</DisorderDisorderAssociationList> |
| 101998 | ······<SummaryInformationList·count="1"> | 101992 | ······<SummaryInformationList·count="0"> |
| 101999 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 102000 | ··········<TextSectionList·count="0"> | |
| 102001 | ··········</TextSectionList> | |
| 102002 | ··········<TextAuto> | |
| 102003 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 102004 | ··········</TextAuto> | |
| 102005 | ········</SummaryInformation> | |
| 102006 | ······</SummaryInformationList> | 101993 | ······</SummaryInformationList> |
| 102007 | ····</Disorder> | 101994 | ····</Disorder> |
| 102008 | ····<Disorder·id="18199"> | 101995 | ····<Disorder·id="18199"> |
| ⋮ | ⋮ |
| 104068 | ······</ExternalReferenceList> | 104055 | ······</ExternalReferenceList> |
| 104069 | ······<DisorderDisorderAssociationList·count="0"> | 104056 | ······<DisorderDisorderAssociationList·count="0"> |
| 104070 | ······</DisorderDisorderAssociationList> | 104057 | ······</DisorderDisorderAssociationList> |
| 104071 | ······<SummaryInformationList·count="1"> | 104058 | ······<SummaryInformationList·count="0"> |
| 104072 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 104073 | ··········<TextSectionList·count="0"> | |
| 104074 | ··········</TextSectionList> | |
| 104075 | ··········<TextAuto> | |
| 104076 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 104077 | ··········</TextAuto> | |
| 104078 | ········</SummaryInformation> | |
| 104079 | ······</SummaryInformationList> | 104059 | ······</SummaryInformationList> |
| 104080 | ····</Disorder> | 104060 | ····</Disorder> |
| 104081 | ····<Disorder·id="965"> | 104061 | ····<Disorder·id="965"> |
| ⋮ | ⋮ |
| 105185 | ··············<TextSectionType·id="16907"> | 105165 | ··············<TextSectionType·id="16907"> |
| 105186 | ················<Name·lang="nl">Definitie·ziekte</Name> | 105166 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 105187 | ··············</TextSectionType> | 105167 | ··············</TextSectionType> |
| 105188 | ··············<Contents>Een·zeldzame,·multisystemische,·genetische·aandoening,·gekarakteriseerd·door·lentigines,·hypertrofische·cardiomyopathie,·kleine·gestalte,·misvorming·van·pectus,·en·dysmorfe·gelaatskenmerken.</Contents> | 105168 | ··············<Contents>Een·zeldzame,·multisystemische,·genetische·aandoening,·gekarakteriseerd·door·cutane·lentigines,·hypertrofische·cardiomyopathie,·kleine·gestalte,·misvorming·van·borstwand,·en·dysmorfe·gelaatskenmerken.</Contents> |
| 105189 | ············</TextSection> | 105169 | ············</TextSection> |
| 105190 | ··········</TextSectionList> | 105170 | ··········</TextSectionList> |
| 105191 | ········</SummaryInformation> | 105171 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 107086 | ··············<TextSectionType·id="16907"> | 107066 | ··············<TextSectionType·id="16907"> |
| 107087 | ················<Name·lang="nl">Definitie·ziekte</Name> | 107067 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 107088 | ··············</TextSectionType> | 107068 | ··············</TextSectionType> |
| 107089 | ··············<Contents>Een·zeldzame·klinische·entiteit·met·cryptoftalmie·en·syndactylie·als·voornaamste·karakteristieken.</Contents> | 107069 | ··············<Contents>Een·zeldzame·congenitale·malformatie,·vooral·gekarakteriseerd·door·unilaterale·of·bilaterale·cryptoftalmie,·syndactylie,·en·urogenitale·anomalieën.</Contents> |
| 107090 | ············</TextSection> | 107070 | ············</TextSection> |
| 107091 | ··········</TextSectionList> | 107071 | ··········</TextSectionList> |
| 107092 | ········</SummaryInformation> | 107072 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 111407 | ······</ExternalReferenceList> | 111387 | ······</ExternalReferenceList> |
| 111408 | ······<DisorderDisorderAssociationList·count="0"> | 111388 | ······<DisorderDisorderAssociationList·count="0"> |
| 111409 | ······</DisorderDisorderAssociationList> | 111389 | ······</DisorderDisorderAssociationList> |
| 111410 | ······<SummaryInformationList·count="0"> | 111390 | ······<SummaryInformationList·count="1"> |
| | 111391 | ········<SummaryInformation·id="128999"·lang="nl"> |
| | 111392 | ··········<TextSectionList·count="1"> |
| | 111393 | ············<TextSection·id="167923"·lang="nl"> |
| | 111394 | ··············<TextSectionType·id="16907"> |
| | 111395 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 111396 | ··············</TextSectionType> |
| | 111397 | ··············<Contents>Een·zeldzame·klassieke·organische·acidurie,·gekarakteriseerd·door·accumulatie·in·weefsel·en·verhoogde·excretie·in·urine·van·3-hydroxyisoboterzuur.·Het·klinische·fenotype·varieert·van·recidiverende·milde·episodes·van·braken·met·normale·cognitieve·ontwikkeling·tot·massale·acidose,·insulten·en·niet-gedijen·met·zeer·ernstige·intellectuele·achterstand·en·vroeg·overlijden.·Dysmorfe·craniofaciale·kenmerken·(zoals·microcefalie,·driehoekig·gelaat,·kort·en·hellend·voorhoofd,·lang·en·prominent·filtrum,·en·micrognathie)·en·variabele·cerebrale·anomalieën·werden·ook·reeds·beschreven.</Contents> |
| | 111398 | ············</TextSection> |
| | 111399 | ··········</TextSectionList> |
| | 111400 | ········</SummaryInformation> |
| 111411 | ······</SummaryInformationList> | 111401 | ······</SummaryInformationList> |
| 111412 | ····</Disorder> | 111402 | ····</Disorder> |
| 111413 | ····<Disorder·id="1259"> | 111403 | ····<Disorder·id="1259"> |
| ⋮ | ⋮ |
| 115625 | ··········<Value>8192</Value> | 115615 | ··········<Value>8192</Value> |
| 115626 | ··········<Label>Inactive</Label> | 115616 | ··········<Label>Inactive</Label> |
| 115627 | ········</DisorderFlag> | 115617 | ········</DisorderFlag> |
| 115628 | ········<DisorderFlag·id="461"> | 115618 | ········<DisorderFlag·id="455"> |
| 115629 | ··········<Value>1024</Value> | 115619 | ··········<Value>16</Value> |
| 115630 | ··········<Label>Obsolete·with·resources</Label> | 115620 | ··········<Label>Obsolete·entity</Label> |
| 115631 | ········</DisorderFlag> | 115621 | ········</DisorderFlag> |
| 115632 | ······</DisorderFlagList> | 115622 | ······</DisorderFlagList> |
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| ⋮ | ⋮ |
| 120923 | ··········<Label></Label> | 120913 | ··········<Label></Label> |
| 120924 | ········</DisorderFlag> | 120914 | ········</DisorderFlag> |
| 120925 | ······</DisorderFlagList> | 120915 | ······</DisorderFlagList> |
| 120926 | ······<SynonymList·count="0"> | 120916 | ······<SynonymList·count="1"> |
| | 120917 | ········<Synonym·lang="nl">Acute·myelitis·transversa</Synonym> |
| 120927 | ······</SynonymList> | 120918 | ······</SynonymList> |
| 120928 | ······<DisorderType·id="21394"> | 120919 | ······<DisorderType·id="21394"> |
| 120929 | ········<Name·lang="nl">Ziekte</Name> | 120920 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 125826 | ····<Disorder·id="1533"> | 125817 | ····<Disorder·id="1533"> |
| 125827 | ······<OrphaCode>1299</OrphaCode> | 125818 | ······<OrphaCode>1299</OrphaCode> |
| 125828 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=1299</ExpertLink> | 125819 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=1299</ExpertLink> |
| 125829 | ······<Name·lang="nl">Branchio-skeleto-genitaal·syndroom</Name> | 125820 | ······<Name·lang="nl">Branchioskeletogenitaal·syndroom</Name> |
| 125830 | ······<DisorderFlagList·count="1"> | 125821 | ······<DisorderFlagList·count="1"> |
| 125831 | ········<DisorderFlag·id="475"> | 125822 | ········<DisorderFlag·id="475"> |
| 125832 | ··········<Value>1</Value> | 125823 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 130256 | ····<Disorder·id="16715"> | 130247 | ····<Disorder·id="16715"> |
| 130257 | ······<OrphaCode>137776</OrphaCode> | 130248 | ······<OrphaCode>137776</OrphaCode> |
| 130258 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=137776</ExpertLink> | 130249 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=137776</ExpertLink> |
| 130259 | ······<Name·lang="nl">Letaal·congenitaal·contractuursyndroom·type·2</Name> | 130250 | ······<Name·lang="nl">Letale·congenitale·contracturen-syndroom·type·2</Name> |
| 130260 | ······<DisorderFlagList·count="1"> | 130251 | ······<DisorderFlagList·count="1"> |
| 130261 | ········<DisorderFlag·id="475"> | 130252 | ········<DisorderFlag·id="475"> |
| 130262 | ··········<Value>1</Value> | 130253 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 130265 | ······</DisorderFlagList> | 130256 | ······</DisorderFlagList> |
| 130266 | ······<SynonymList·count="3"> | 130257 | ······<SynonymList·count="3"> |
| 130267 | ········<Synonym·lang="nl">LCCS2</Synonym> | 130258 | ········<Synonym·lang="nl">LCCS2</Synonym> |
| 130268 | ········<Synonym·lang="nl">Meervoudig·contractuursyndroom,·Israeli-Bedouin-type</Synonym> | 130259 | ········<Synonym·lang="nl">Meervoudige·contracturen-syndroom,·Israeli-Bedouin-type</Synonym> |
| 130269 | ········<Synonym·lang="nl">Meervoudig·contractuursyndroom,·Israëlische-Bedoeïenen-type</Synonym> | 130260 | ········<Synonym·lang="nl">Meervoudige·contracturen-syndroom,·Israëlische-Bedoeïenen-type</Synonym> |
| 130270 | ······</SynonymList> | 130261 | ······</SynonymList> |
| 130271 | ······<DisorderType·id="21401"> | 130262 | ······<DisorderType·id="21401"> |
| 130272 | ········<Name·lang="nl">Malformatiesyndroom</Name> | 130263 | ········<Name·lang="nl">Malformatiesyndroom</Name> |
| ⋮ | ⋮ |
| 130788 | ····<Disorder·id="16716"> | 130779 | ····<Disorder·id="16716"> |
| 130789 | ······<OrphaCode>137783</OrphaCode> | 130780 | ······<OrphaCode>137783</OrphaCode> |
| 130790 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=137783</ExpertLink> | 130781 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=137783</ExpertLink> |
| 130791 | ······<Name·lang="nl">Letaal·congenitaal·contractuursyndroom·type·3</Name> | 130782 | ······<Name·lang="nl">Letale·congenitale·contracturen-syndroom·type·3</Name> |
| 130792 | ······<DisorderFlagList·count="1"> | 130783 | ······<DisorderFlagList·count="1"> |
| 130793 | ········<DisorderFlag·id="475"> | 130784 | ········<DisorderFlag·id="475"> |
| 130794 | ··········<Value>1</Value> | 130785 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 131013 | ····<Disorder·id="1461"> | 131004 | ····<Disorder·id="1461"> |
| 131014 | ······<OrphaCode>1215</OrphaCode> | 131005 | ······<OrphaCode>1215</OrphaCode> |
| 131015 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=1215</ExpertLink> | 131006 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=1215</ExpertLink> |
| 131016 | ······<Name·lang="nl">Autosomaal·dominante·opticusatrofie-plus·syndroom</Name> | 131007 | ······<Name·lang="nl">Autosomaal·dominante·opticusatrofie·plus-syndroom</Name> |
| 131017 | ······<DisorderFlagList·count="1"> | 131008 | ······<DisorderFlagList·count="1"> |
| 131018 | ········<DisorderFlag·id="475"> | 131009 | ········<DisorderFlag·id="475"> |
| 131019 | ··········<Value>1</Value> | 131010 | ··········<Value>1</Value> |
| 131020 | ··········<Label></Label> | 131011 | ··········<Label></Label> |
| 131021 | ········</DisorderFlag> | 131012 | ········</DisorderFlag> |
| 131022 | ······</DisorderFlagList> | 131013 | ······</DisorderFlagList> |
| 131023 | ······<SynonymList·count="4"> | 131014 | ······<SynonymList·count="3"> |
| 131024 | ········<Synonym·lang="nl">Autosomaal·dominante·optische·atrofie·plus-syndroom</Synonym> | |
| 131025 | ········<Synonym·lang="nl">DOA+</Synonym> | 131015 | ········<Synonym·lang="nl">DOA+</Synonym> |
| 131026 | ········<Synonym·lang="nl">Opticusatrofie·-·doofheid·-·polyneuropathie·-·myopathie-syndroom</Synonym> | 131016 | ········<Synonym·lang="nl">Opticusatrofie·-·doofheid·-·polyneuropathie·-·myopathie-syndroom</Synonym> |
| 131027 | ········<Synonym·lang="nl">Optische·atrofie·-·doofheid·-·polyneuropathie·-·myopathie-syndroom</Synonym> | 131017 | ········<Synonym·lang="nl">Opticusatrofie·-·gehoorverlies·-·polyneuropathie·-·myopathie-syndroom</Synonym> |
| 131028 | ······</SynonymList> | 131018 | ······</SynonymList> |
| 131029 | ······<DisorderType·id="21394"> | 131019 | ······<DisorderType·id="21394"> |
| 131030 | ········<Name·lang="nl">Ziekte</Name> | 131020 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 133088 | ····<Disorder·id="16744"> | 133078 | ····<Disorder·id="16744"> |
| 133089 | ······<OrphaCode>137914</OrphaCode> | 133079 | ······<OrphaCode>137914</OrphaCode> |
| 133090 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=137914</ExpertLink> | 133080 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=137914</ExpertLink> |
| 133091 | ······<Name·lang="nl">Choane·atresie</Name> | 133081 | ······<Name·lang="nl">Choanale·atresie</Name> |
| 133092 | ······<DisorderFlagList·count="1"> | 133082 | ······<DisorderFlagList·count="1"> |
| 133093 | ········<DisorderFlag·id="475"> | 133083 | ········<DisorderFlag·id="475"> |
| 133094 | ··········<Value>1</Value> | 133084 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 133097 | ······</DisorderFlagList> | 133087 | ······</DisorderFlagList> |
| 133098 | ······<SynonymList·count="2"> | 133088 | ······<SynonymList·count="2"> |
| 133099 | ········<Synonym·lang="nl">Atresia·choanae</Synonym> | 133089 | ········<Synonym·lang="nl">Atresia·choanae</Synonym> |
| 133100 | ········<Synonym·lang="nl">Choanale·atresie</Synonym> | 133090 | ········<Synonym·lang="nl">Choane-atresie</Synonym> |
| 133101 | ······</SynonymList> | 133091 | ······</SynonymList> |
| 133102 | ······<DisorderType·id="21415"> | 133092 | ······<DisorderType·id="21415"> |
| 133103 | ········<Name·lang="nl">Morfologische·anomalie</Name> | 133093 | ········<Name·lang="nl">Morfologische·anomalie</Name> |
| ⋮ | ⋮ |
| 133417 | ··············<TextSectionType·id="16907"> | 133407 | ··············<TextSectionType·id="16907"> |
| 133418 | ················<Name·lang="nl">Definitie·ziekte</Name> | 133408 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 133419 | ··············</TextSectionType> | 133409 | ··············</TextSectionType> |
| 133420 | ··············<Contents>Choanale·atresie·-·doofheid·-·hartafwijkingen·-·dysmorfiesyndroom,·ook·wel·bekend·als·Burn-McKeownsyndroom,·is·een·uiterst·zeldzaam·syndroom·met·multipele·aangeboren·afwijkingen·en·wordt·gekenmerkt·door·bilaterale·choanale·atresie·(zie·deze·term)·geassocieerd·met·een·karakteristieke·craniofaciale·dysmorfie·(hypertelorisme·met·smalle·oogspleten,·coloboom·van·het·onderste·ooglid·(zie·deze·term)·met·aanwezigheid·van·wimpers·mediaal·van·het·defect,·prominente·neusbrug,·dunne·lippen,·prominente·oren),·dat·gepaard·kan·gaan·met·gehoorverlies,·een·eenzijdige·gespleten·lip,·preauriculaire·aanhangsels,·cardiale·septumdefecten·en·afwijkingen·van·de·nieren.·De·kenmerken·van·dit·syndroom·overlappen·sterk·met·die·van·het·CHARGE-syndroom·(zie·deze·term).</Contents> | 133410 | ··············<Contents>Een·zeldzaam·syndroom·met·multipele·congenitale·anomalieën,·gekarakteriseerd·door·bilaterale·choanale·atresie·geassocieerd·met·typische·craniofaciale·dysmorfie·(hypertelorisme·met·smalle·ooglidspleten,·coloboom·van·onderste·oogleden·met·aanwezigheid·van·wimpers·mediaal·van·het·defect,·prominente·neusbrug,·dunne·lippen,·prominente·oren),·en·mogelijk·vergezeld·van·gehoorverlies,·unilateraal·gespleten·lip,·pre-auriculaire·aanhangsels,·hartseptumdefecten·en·nieranomalieën.·Getroffen·individuen·hebben·een·normale·intelligentie.</Contents> |
| 133421 | ············</TextSection> | 133411 | ············</TextSection> |
| 133422 | ··········</TextSectionList> | 133412 | ··········</TextSectionList> |
| 133423 | ········</SummaryInformation> | 133413 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 133639 | ····<Disorder·id="16749"> | 133629 | ····<Disorder·id="16749"> |
| 133640 | ······<OrphaCode>137929</OrphaCode> | 133630 | ······<OrphaCode>137929</OrphaCode> |
| 133641 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=137929</ExpertLink> | 133631 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=137929</ExpertLink> |
| 133642 | ······<Name·lang="nl">Neonatale·disfunctie·van·de·hersenstam</Name> | 133632 | ······<Name·lang="nl">Neonatale·disfunctie·van·hersenstam</Name> |
| 133643 | ······<DisorderFlagList·count="1"> | 133633 | ······<DisorderFlagList·count="1"> |
| 133644 | ········<DisorderFlag·id="475"> | 133634 | ········<DisorderFlag·id="475"> |
| 133645 | ··········<Value>1</Value> | 133635 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 135748 | ··········<Label></Label> | 135738 | ··········<Label></Label> |
| 135749 | ········</DisorderFlag> | 135739 | ········</DisorderFlag> |
| 135750 | ······</DisorderFlagList> | 135740 | ······</DisorderFlagList> |
| 135751 | ······<SynonymList·count="7"> | 135741 | ······<SynonymList·count="8"> |
| 135752 | ········<Synonym·lang="nl">Diffuse·lymfangiomatose</Synonym> | 135742 | ········<Synonym·lang="nl">Diffuse·lymfangiomatose</Synonym> |
| | 135743 | ········<Synonym·lang="nl">Diffuse·malformatie·van·lymfestelsel</Synonym> |
| 135753 | ········<Synonym·lang="nl">Diffuus·lymfangioom</Synonym> | 135744 | ········<Synonym·lang="nl">Diffuus·lymfangioom</Synonym> |
| 135754 | ········<Synonym·lang="nl">GLA</Synonym> | 135745 | ········<Synonym·lang="nl">GLA</Synonym> |
| 135755 | ········<Synonym·lang="nl">Gegeneraliseerde·lymfatische·anomalie</Synonym> | 135746 | ········<Synonym·lang="nl">Gegeneraliseerde·lymfatische·anomalie</Synonym> |
| ⋮ | ⋮ |
| 136530 | ····<Disorder·id="1660"> | 136521 | ····<Disorder·id="1660"> |
| 136531 | ······<OrphaCode>1486</OrphaCode> | 136522 | ······<OrphaCode>1486</OrphaCode> |
| 136532 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=1486</ExpertLink> | 136523 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=1486</ExpertLink> |
| 136533 | ······<Name·lang="nl">Letaal·congenitaal·contractuursyndroom·type·1</Name> | 136524 | ······<Name·lang="nl">Letale·congenitale·contracturen-syndroom·type·1</Name> |
| 136534 | ······<DisorderFlagList·count="1"> | 136525 | ······<DisorderFlagList·count="1"> |
| 136535 | ········<DisorderFlag·id="475"> | 136526 | ········<DisorderFlag·id="475"> |
| 136536 | ··········<Value>1</Value> | 136527 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 136539 | ······</DisorderFlagList> | 136530 | ······</DisorderFlagList> |
| 136540 | ······<SynonymList·count="3"> | 136531 | ······<SynonymList·count="3"> |
| 136541 | ········<Synonym·lang="nl">LCCS1</Synonym> | 136532 | ········<Synonym·lang="nl">LCCS1</Synonym> |
| 136542 | ········<Synonym·lang="nl">Meervoudige·contractuursyndroom,·Fins·type</Synonym> | 136533 | ········<Synonym·lang="nl">Meervoudige·contracturen-syndroom,·Fins·type</Synonym> |
| 136543 | ········<Synonym·lang="nl">Ziekte·van·Herva</Synonym> | 136534 | ········<Synonym·lang="nl">Ziekte·van·Herva</Synonym> |
| 136544 | ······</SynonymList> | 136535 | ······</SynonymList> |
| 136545 | ······<DisorderType·id="21401"> | 136536 | ······<DisorderType·id="21401"> |
| ⋮ | ⋮ |
| 139817 | ····<Disorder·id="17041"> | 139808 | ····<Disorder·id="17041"> |
| 139818 | ······<OrphaCode>141121</OrphaCode> | 139809 | ······<OrphaCode>141121</OrphaCode> |
| 139819 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=141121</ExpertLink> | 139810 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=141121</ExpertLink> |
| 139820 | ······<Name·lang="nl">Congenitale·subglottale·stenose</Name> | 139811 | ······<Name·lang="nl">Congenitale·subglottisstenose</Name> |
| 139821 | ······<DisorderFlagList·count="1"> | 139812 | ······<DisorderFlagList·count="1"> |
| 139822 | ········<DisorderFlag·id="475"> | 139813 | ········<DisorderFlag·id="475"> |
| 139823 | ··········<Value>1</Value> | 139814 | ··········<Value>1</Value> |
| 139824 | ··········<Label></Label> | 139815 | ··········<Label></Label> |
| 139825 | ········</DisorderFlag> | 139816 | ········</DisorderFlag> |
| 139826 | ······</DisorderFlagList> | 139817 | ······</DisorderFlagList> |
| 139827 | ······<SynonymList·count="0"> | 139818 | ······<SynonymList·count="1"> |
| | 139819 | ········<Synonym·lang="nl">Congenitale·subglottische·stenose</Synonym> |
| 139828 | ······</SynonymList> | 139820 | ······</SynonymList> |
| 139829 | ······<DisorderType·id="21401"> | 139821 | ······<DisorderType·id="21401"> |
| 139830 | ········<Name·lang="nl">Malformatiesyndroom</Name> | 139822 | ········<Name·lang="nl">Malformatiesyndroom</Name> |
| ⋮ | ⋮ |
| 142379 | ··········<Label></Label> | 142371 | ··········<Label></Label> |
| 142380 | ········</DisorderFlag> | 142372 | ········</DisorderFlag> |
| 142381 | ······</DisorderFlagList> | 142373 | ······</DisorderFlagList> |
| 142382 | ······<SynonymList·count="3"> | 142374 | ······<SynonymList·count="2"> |
| 142383 | ········<Synonym·lang="nl">Onvolledige·situs·inversus</Synonym> | 142375 | ········<Synonym·lang="nl">Onvolledige·situs·inversus</Synonym> |
| 142384 | ········<Synonym·lang="nl">Partiële·situs·inversus</Synonym> | 142376 | ········<Synonym·lang="nl">Partiële·situs·inversus</Synonym> |
| 142385 | ········<Synonym·lang="nl">Situs·ambiguous</Synonym> | |
| 142386 | ······</SynonymList> | 142377 | ······</SynonymList> |
| 142387 | ······<DisorderType·id="21415"> | 142378 | ······<DisorderType·id="21415"> |
| 142388 | ········<Name·lang="nl">Morfologische·anomalie</Name> | 142379 | ········<Name·lang="nl">Morfologische·anomalie</Name> |
| ⋮ | ⋮ |
| 142520 | ········<DisorderDisorderAssociation> | 142511 | ········<DisorderDisorderAssociation> |
| 142521 | ··········<TargetDisorder·id="1533"> | 142512 | ··········<TargetDisorder·id="1533"> |
| 142522 | ············<OrphaCode>1299</OrphaCode> | 142513 | ············<OrphaCode>1299</OrphaCode> |
| 142523 | ············<Name·lang="nl">Branchio-skeleto-genitaal·syndroom</Name> | 142514 | ············<Name·lang="nl">Branchioskeletogenitaal·syndroom</Name> |
| 142524 | ··········</TargetDisorder> | 142515 | ··········</TargetDisorder> |
| 142525 | ··········<RootDisorder·id="17143"·cycle="true"/> | 142516 | ··········<RootDisorder·id="17143"·cycle="true"/> |
| 142526 | ··········<DisorderDisorderAssociationType·id="21471"> | 142517 | ··········<DisorderDisorderAssociationType·id="21471"> |
| ⋮ | ⋮ |
| 151170 | ····<Disorder·id="16921"> | 151161 | ····<Disorder·id="16921"> |
| 151171 | ······<OrphaCode>139573</OrphaCode> | 151162 | ······<OrphaCode>139573</OrphaCode> |
| 151172 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=139573</ExpertLink> | 151163 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=139573</ExpertLink> |
| 151173 | ······<Name·lang="nl">Erfelijke·sensorische·en·autonome·neuropathie·met·doofheid·en·algemene·achterstand</Name> | 151164 | ······<Name·lang="nl">Erfelijke·sensorische·en·autonome·neuropathie·met·doofheid·en·algehele·achterstand</Name> |
| 151174 | ······<DisorderFlagList·count="1"> | 151165 | ······<DisorderFlagList·count="1"> |
| 151175 | ········<DisorderFlag·id="475"> | 151166 | ········<DisorderFlag·id="475"> |
| 151176 | ··········<Value>1</Value> | 151167 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 151178 | ········</DisorderFlag> | 151169 | ········</DisorderFlag> |
| 151179 | ······</DisorderFlagList> | 151170 | ······</DisorderFlagList> |
| 151180 | ······<SynonymList·count="1"> | 151171 | ······<SynonymList·count="1"> |
| 151181 | ········<Synonym·lang="nl">HSAN·met·doofheid·en·algemene·achterstand</Synonym> | 151172 | ········<Synonym·lang="nl">HSAN·met·doofheid·en·algehele·achterstand</Synonym> |
| 151182 | ······</SynonymList> | 151173 | ······</SynonymList> |
| 151183 | ······<DisorderType·id="21394"> | 151174 | ······<DisorderType·id="21394"> |
| 151184 | ········<Name·lang="nl">Ziekte</Name> | 151175 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 153186 | ····<Disorder·id="17003"> | 153177 | ····<Disorder·id="17003"> |
| 153187 | ······<OrphaCode>140941</OrphaCode> | 153178 | ······<OrphaCode>140941</OrphaCode> |
| 153188 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=140941</ExpertLink> | 153179 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=140941</ExpertLink> |
| 153189 | ······<Name·lang="nl">Kleine·gestalte·door·primaire·zuurlabiele·subeenheiddeficiëntie</Name> | 153180 | ······<Name·lang="nl">Kleine·gestalte·door·primaire·deficiëntie·van·zuurlabiele·subeenheid</Name> |
| 153190 | ······<DisorderFlagList·count="1"> | 153181 | ······<DisorderFlagList·count="1"> |
| 153191 | ········<DisorderFlag·id="475"> | 153182 | ········<DisorderFlag·id="475"> |
| 153192 | ··········<Value>1</Value> | 153183 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 154594 | ····<Disorder·id="1725"> | 154585 | ····<Disorder·id="1725"> |
| 154595 | ······<OrphaCode>1979</OrphaCode> | 154586 | ······<OrphaCode>1979</OrphaCode> |
| 154596 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=1979</ExpertLink> | 154587 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=1979</ExpertLink> |
| 154597 | ······<Name·lang="nl">Lipodystrofie·als·gevolg·van·deficiëntie·van·peptidische·groeifactoren</Name> | 154588 | ······<Name·lang="nl">Lipodystrofie·door·deficiëntie·van·peptidische·groeifactoren</Name> |
| 154598 | ······<DisorderFlagList·count="1"> | 154589 | ······<DisorderFlagList·count="1"> |
| 154599 | ········<DisorderFlag·id="475"> | 154590 | ········<DisorderFlag·id="475"> |
| 154600 | ··········<Value>1</Value> | 154591 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 154602 | ········</DisorderFlag> | 154593 | ········</DisorderFlag> |
| 154603 | ······</DisorderFlagList> | 154594 | ······</DisorderFlagList> |
| 154604 | ······<SynonymList·count="3"> | 154595 | ······<SynonymList·count="3"> |
| 154605 | ········<Synonym·lang="nl">Gecombineerde·insuline-,·insuline-achtige·groeifactor·1·(IGF1)-·en·epidermale·groeifactor·(EGF)-deficiëntie</Synonym> | 154596 | ········<Synonym·lang="nl">Gecombineerde·deficiëntie·van·insuline,·insulineachtige·groeifactor·1·(IGF1)·en·epidermale·groeifactor·(EGF)</Synonym> |
| 154606 | ········<Synonym·lang="nl">Syndroom·van·Hoepffner-Dreyer-Reimers</Synonym> | 154597 | ········<Synonym·lang="nl">Syndroom·van·Hoepffner-Dreyer-Reimers</Synonym> |
| 154607 | ········<Synonym·lang="nl">Werner-achtig·syndroom·als·gevolg·van·gecombineerde·groeifactordeficiëntie</Synonym> | 154598 | ········<Synonym·lang="nl">Werner-achtig·syndroom·door·gecombineerde·deficiëntie·van·groeifactoren</Synonym> |
| 154608 | ······</SynonymList> | 154599 | ······</SynonymList> |
| 154609 | ······<DisorderType·id="21394"> | 154600 | ······<DisorderType·id="21394"> |
| 154610 | ········<Name·lang="nl">Ziekte</Name> | 154601 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 155820 | ······</ExternalReferenceList> | 155811 | ······</ExternalReferenceList> |
| 155821 | ······<DisorderDisorderAssociationList·count="0"> | 155812 | ······<DisorderDisorderAssociationList·count="0"> |
| 155822 | ······</DisorderDisorderAssociationList> | 155813 | ······</DisorderDisorderAssociationList> |
| 155823 | ······<SummaryInformationList·count="0"> | 155814 | ······<SummaryInformationList·count="1"> |
| | 155815 | ········<SummaryInformation·id="129135"·lang="nl"> |
| | 155816 | ··········<TextSectionList·count="1"> |
| | 155817 | ············<TextSection·id="167988"·lang="nl"> |
| | 155818 | ··············<TextSectionType·id="16907"> |
| | 155819 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 155820 | ··············</TextSectionType> |
| | 155821 | ··············<Contents>Een·zeldzaam,·genetisch·syndroom·met·multipele·congenitale·anomalieën/dysmorfie,·gekarakteriseerd·door·psychomotorische·achterstand,·groeiachterstand,·ernstige·intellectuele·achterstand,·microcefalie,·en·hypoplastisch·corpus·callosum.·Bijkomende·manifestaties·die·werden·gerapporteerd,·zijn·onder·meer·verhoogde·spiertonus,·insulten,·hartanomalieën,·recidiverende·bronchopneumonie,·camptodactylie,·pre-auriculair·aanhangsel,·en·dysmorfe·gelaatskenmerken·(zoals·breed·voorhoofd,·hypertelorisme,·platte·neusbrug,·anteversie·van·de·neusgaten,·en·prominente·oren).</Contents> |
| | 155822 | ············</TextSection> |
| | 155823 | ··········</TextSectionList> |
| | 155824 | ········</SummaryInformation> |
| 155824 | ······</SummaryInformationList> | 155825 | ······</SummaryInformationList> |
| 155825 | ····</Disorder> | 155826 | ····</Disorder> |
| 155826 | ····<Disorder·id="16963"> | 155827 | ····<Disorder·id="16963"> |
| ⋮ | ⋮ |
| 155891 | ······</ExternalReferenceList> | 155892 | ······</ExternalReferenceList> |
| 155892 | ······<DisorderDisorderAssociationList·count="0"> | 155893 | ······<DisorderDisorderAssociationList·count="0"> |
| 155893 | ······</DisorderDisorderAssociationList> | 155894 | ······</DisorderDisorderAssociationList> |
| 155894 | ······<SummaryInformationList·count="1"> | 155895 | ······<SummaryInformationList·count="0"> |
| 155895 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 155896 | ··········<TextSectionList·count="0"> | |
| 155897 | ··········</TextSectionList> | |
| 155898 | ··········<TextAuto> | |
| 155899 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 155900 | ··········</TextAuto> | |
| 155901 | ········</SummaryInformation> | |
| 155902 | ······</SummaryInformationList> | 155896 | ······</SummaryInformationList> |
| 155903 | ····</Disorder> | 155897 | ····</Disorder> |
| 155904 | ····<Disorder·id="1676"> | 155898 | ····<Disorder·id="1676"> |
| ⋮ | ⋮ |
| 156007 | ··········<Label></Label> | 156001 | ··········<Label></Label> |
| 156008 | ········</DisorderFlag> | 156002 | ········</DisorderFlag> |
| 156009 | ······</DisorderFlagList> | 156003 | ······</DisorderFlagList> |
| 156010 | ······<SynonymList·count="2"> | 156004 | ······<SynonymList·count="1"> |
| 156011 | ········<Synonym·lang="nl">Erfelijke·sensorische·en·autonome·neuropathie</Synonym> | |
| 156012 | ········<Synonym·lang="nl">HSAN</Synonym> | 156005 | ········<Synonym·lang="nl">HSAN</Synonym> |
| 156013 | ······</SynonymList> | 156006 | ······</SynonymList> |
| 156014 | ······<DisorderType·id="21436"> | 156007 | ······<DisorderType·id="21436"> |
| ⋮ | ⋮ |
| 156572 | ······</ExternalReferenceList> | 156565 | ······</ExternalReferenceList> |
| 156573 | ······<DisorderDisorderAssociationList·count="0"> | 156566 | ······<DisorderDisorderAssociationList·count="0"> |
| 156574 | ······</DisorderDisorderAssociationList> | 156567 | ······</DisorderDisorderAssociationList> |
| 156575 | ······<SummaryInformationList·count="1"> | 156568 | ······<SummaryInformationList·count="0"> |
| 156576 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 156577 | ··········<TextSectionList·count="0"> | |
| 156578 | ··········</TextSectionList> | |
| 156579 | ··········<TextAuto> | |
| 156580 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 156581 | ··········</TextAuto> | |
| 156582 | ········</SummaryInformation> | |
| 156583 | ······</SummaryInformationList> | 156569 | ······</SummaryInformationList> |
| 156584 | ····</Disorder> | 156570 | ····</Disorder> |
| 156585 | ····<Disorder·id="1674"> | 156571 | ····<Disorder·id="1674"> |
| ⋮ | ⋮ |
| 157126 | ····<Disorder·id="16976"> | 157112 | ····<Disorder·id="16976"> |
| 157127 | ······<OrphaCode>140481</OrphaCode> | 157113 | ······<OrphaCode>140481</OrphaCode> |
| 157128 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=140481</ExpertLink> | 157114 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=140481</ExpertLink> |
| 157129 | ······<Name·lang="nl">Autosomaal·dominant·vertraagde·zenuwgeleidingssnelheid</Name> | 157115 | ······<Name·lang="nl">Autosomaal·dominante·vertraagde·zenuwgeleidingssnelheid</Name> |
| 157130 | ······<DisorderFlagList·count="1"> | 157116 | ······<DisorderFlagList·count="1"> |
| 157131 | ········<DisorderFlag·id="475"> | 157117 | ········<DisorderFlag·id="475"> |
| 157132 | ··········<Value>1</Value> | 157118 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 159429 | ··············<TextSectionType·id="16907"> | 159415 | ··············<TextSectionType·id="16907"> |
| 159430 | ················<Name·lang="nl">Definitie·ziekte</Name> | 159416 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 159431 | ··············</TextSectionType> | 159417 | ··············</TextSectionType> |
| 159432 | ··············<Contents>Een·zeldzame·stoornis·van·het·fenylalaninemetabolisme,·een·aangeboren·defect·van·het·aminozuurmetabolisme,·gekarakteriseerd·door·de·ontwikkeling·van·microcefalie,·groeiretardatie,·congenitale·hartziekte,·faciale·dysmorfie·en·intellectuele·achterstand·bij·nakomelingen·zonder·fenylketonurie·van·moeders·met·overmatige·fenylalanine·(Phe)-concentraties.</Contents> | 159418 | ··············<Contents>Een·zeldzame·stoornis·van·het·metabolisme·van·fenylalanine·(Phe),·een·aangeboren·defect·van·het·aminozuurmetabolisme,·gekarakteriseerd·door·de·ontwikkeling·van·microcefalie,·groeiretardatie,·congenitale·hartziekte,·faciale·dysmorfie·en·intellectuele·achterstand·bij·nakomelingen·zonder·fenylketonurie·van·moeders·met·overmatige·Phe-concentraties·in·het·bloed.</Contents> |
| 159433 | ············</TextSection> | 159419 | ············</TextSection> |
| 159434 | ··········</TextSectionList> | 159420 | ··········</TextSectionList> |
| 159435 | ········</SummaryInformation> | 159421 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 167080 | ··············<TextSectionType·id="16907"> | 167066 | ··············<TextSectionType·id="16907"> |
| 167081 | ················<Name·lang="nl">Definitie·ziekte</Name> | 167067 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 167082 | ··············</TextSectionType> | 167068 | ··············</TextSectionType> |
| 167083 | ··············<Contents>Syndroom·van·Hartsfield·is·een·zeldzaam,·genetisch·malformatiesyndroom·met·een·ontwikkelingsdefect·tijdens·de·embryogenese,·en·wordt·gekarakteriseerd·door·de·associatie·van·variabele·gradaties·van·holoprosencefalie·en·uni-·of·bilaterale·ectrodactylie·van·de·handen·en/of·voeten.·Bijkomende·variabele·kenmerken·kunnen·geassocieerd·zijn,·waaronder·faciale·dysmorfie·(e.g.·hypertelorisme,·korte·en·bolle·neus,·lang·filtrum,·dysplastische/laagstaande·oren,·gespleten·lip·en·verhemelte,·tentvormige·bovenlip),·andere·hersenmalformaties·(zoals·agenesie·van·het·corpus·callosum,·afwezig·septum·pellucidum,·afwezige·bulbi·olfactorii·(reukkolven)·/·tracti·olfactorii·(reukbanen),·hypoplasie·van·de·vermis),·hypofyse-gerelateerde·endocriene·stoornissen·(e.g.·centrale·diabetes·insipidus,·hypogonadotroop·hypogonadisme)·en·disfunctie·van·de·hypothalamus.</Contents> | 167069 | ··············<Contents>Een·zeldzaam,·genetisch·syndroom·met·multipele·congenitale·anomalieën,·gekarakteriseerd·door·variabele·expressie·van·het·holoprosencefalie·(HPE)-spectrum·in·associatie·met·ectrodactylie,·gespleten·lip/gehemelte,·en/of·andere·ectodermale·anomalieën.·Ontwikkelingsachterstand·met·variabele·gradaties·van·ernst·en·endocriene·afwijkingen·zijn·vaak·geassocieerd.</Contents> |
| 167084 | ············</TextSection> | 167070 | ············</TextSection> |
| 167085 | ··········</TextSectionList> | 167071 | ··········</TextSectionList> |
| 167086 | ········</SummaryInformation> | 167072 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 167353 | ····<Disorder·id="17171"> | 167339 | ····<Disorder·id="17171"> |
| 167354 | ······<OrphaCode>157997</OrphaCode> | 167340 | ······<OrphaCode>157997</OrphaCode> |
| 167355 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=157997</ExpertLink> | 167341 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=157997</ExpertLink> |
| 167356 | ······<Name·lang="nl">Goedaardige·cefalische·histiocytose</Name> | 167342 | ······<Name·lang="nl">Benigne·cefale·histiocytose</Name> |
| 167357 | ······<DisorderFlagList·count="1"> | 167343 | ······<DisorderFlagList·count="1"> |
| 167358 | ········<DisorderFlag·id="475"> | 167344 | ········<DisorderFlag·id="475"> |
| 167359 | ··········<Value>1</Value> | 167345 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 167527 | ······</ExternalReferenceList> | 167513 | ······</ExternalReferenceList> |
| 167528 | ······<DisorderDisorderAssociationList·count="0"> | 167514 | ······<DisorderDisorderAssociationList·count="0"> |
| 167529 | ······</DisorderDisorderAssociationList> | 167515 | ······</DisorderDisorderAssociationList> |
| 167530 | ······<SummaryInformationList·count="0"> | 167516 | ······<SummaryInformationList·count="1"> |
| | 167517 | ········<SummaryInformation·id="129156"·lang="nl"> |
| | 167518 | ··········<TextSectionList·count="1"> |
| | 167519 | ············<TextSection·id="168009"·lang="nl"> |
| | 167520 | ··············<TextSectionType·id="16907"> |
| | 167521 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 167522 | ··············</TextSectionType> |
| | 167523 | ··············<Contents>Een·zeldzame·niet-Langerhanscel·histiocytose,·gekarakteriseerd·door·snelle·aanvang·van·groepjes·asymptomatische·kleine·rode·tot·bruine·papels,·doorgaans·symmetrisch·verdeeld·over·aangezicht,·romp,·en·proximale·ledematen,·occasioneel·met·betrokkenheid·van·slijmvlies.·De·laesies·verdwijnen·spontaan·zonder·littekenvorming·na·een·variabele·tijdspanne·en·keren·in·de·meeste·gevallen·niet·terug.·Histopathologie·toont·diffuse,·uniforme·dermale·infiltratie·met·niet-xanthomateuze·histiocyten·die·positief·kleuren·voor·CD68·en·Ki-M1p.·Soms·kunnen·multinucleaire·reuscellen·aangetroffen·worden.</Contents> |
| | 167524 | ············</TextSection> |
| | 167525 | ··········</TextSectionList> |
| | 167526 | ········</SummaryInformation> |
| 167531 | ······</SummaryInformationList> | 167527 | ······</SummaryInformationList> |
| 167532 | ····</Disorder> | 167528 | ····</Disorder> |
| 167533 | ····<Disorder·id="2003"> | 167529 | ····<Disorder·id="2003"> |
| ⋮ | ⋮ |
| 167681 | ··········</DisorderDisorderAssociationType> | 167677 | ··········</DisorderDisorderAssociationType> |
| 167682 | ········</DisorderDisorderAssociation> | 167678 | ········</DisorderDisorderAssociation> |
| 167683 | ······</DisorderDisorderAssociationList> | 167679 | ······</DisorderDisorderAssociationList> |
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| 167690 | ··········</TextAuto> | |
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| 167693 | ····</Disorder> | 167682 | ····</Disorder> |
| 167694 | ····<Disorder·id="2000"> | 167683 | ····<Disorder·id="2000"> |
| ⋮ | ⋮ |
| 168307 | ····<Disorder·id="17179"> | 168296 | ····<Disorder·id="17179"> |
| 168308 | ······<OrphaCode>158025</OrphaCode> | 168297 | ······<OrphaCode>158025</OrphaCode> |
| 168309 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=158025</ExpertLink> | 168298 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=158025</ExpertLink> |
| 168310 | ······<Name·lang="nl">Erfelijke·progressieve·mucineuze·histiocytose</Name> | 168299 | ······<Name·lang="nl">Hereditaire·progressieve·mucineuze·histiocytose</Name> |
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| 168313 | ··········<Value>1</Value> | 168302 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 168866 | ······</ExternalReferenceList> | 168855 | ······</ExternalReferenceList> |
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| 168868 | ······</DisorderDisorderAssociationList> | 168857 | ······</DisorderDisorderAssociationList> |
| 168869 | ······<SummaryInformationList·count="1"> | 168858 | ······<SummaryInformationList·count="0"> |
| 168870 | ········<SummaryInformation·id="-1"·lang="nl"> | |
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| 168875 | ··········</TextAuto> | |
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| 168878 | ····</Disorder> | 168860 | ····</Disorder> |
| 168879 | ····<Disorder·id="2014"> | 168861 | ····<Disorder·id="2014"> |
| ⋮ | ⋮ |
| 169014 | ······</ExternalReferenceList> | 168996 | ······</ExternalReferenceList> |
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| 169016 | ······</DisorderDisorderAssociationList> | 168998 | ······</DisorderDisorderAssociationList> |
| 169017 | ······<SummaryInformationList·count="1"> | 168999 | ······<SummaryInformationList·count="0"> |
| 169018 | ········<SummaryInformation·id="-1"·lang="nl"> | |
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| 169023 | ··········</TextAuto> | |
| 169024 | ········</SummaryInformation> | |
| 169025 | ······</SummaryInformationList> | 169000 | ······</SummaryInformationList> |
| 169026 | ····</Disorder> | 169001 | ····</Disorder> |
| 169027 | ····<Disorder·id="2015"> | 169002 | ····<Disorder·id="2015"> |
| ⋮ | ⋮ |
| 171169 | ··············<TextSectionType·id="16907"> | 171144 | ··············<TextSectionType·id="16907"> |
| 171170 | ················<Name·lang="nl">Definitie·ziekte</Name> | 171145 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 171171 | ··············</TextSectionType> | 171146 | ··············</TextSectionType> |
| 171172 | ··············<Contents>Een·zeldzaam·subtype·van·spondylodysplastisch·syndroom·van·Ehlers-Danlos·(EDS)·gekarakteriseerd·door·de·aanwezigheid·van·klassieke·cutane·kenmerken·van·EDS·(i.e.·hyperelastische,·zachte,·deegachtige,·dunne,·doorschijnende·huid·met·atrofische·littekenvorming)·geassocieerd·met·kleine·gestalte·(progressief·in·de·kindertijd),·uitpuilende·ogen·met·blauwig·oogwit,·excessief·gerimpelde·handpalmen,·hypotrofische·spieren·van·de·duimmuis,·spitse·vingers,·en·hypermobiele·distale·gewrichten·met·neiging·tot·contracturen,·als·gevolg·van·mutaties·in·het·gen·<i>SLC39A13</i>.·Kenmerkende·radiologische·bevindingen·omvatten·platyspondylie,·osteopenie·(voornamelijk·in·de·wervels),·verbrede·metafysen·(elleboog,·pols,·interfalangen),·latte·epifysen·(femurhals·en·korte·pijpbeenderen),·en·kleine,·brede·darmbeenderen.</Contents> | 171147 | ··············<Contents>Een·vorm·van·spondylodysplastisch·syndroom·van·Ehlers-Danlos·(EDS)·door·varianten·in·het·gen·<i>SLC39A13</i>,·gekarakteriseerd·door·de·aanwezigheid·van·dunne·en·fijn·gerimpelde·huid·op·handen·en·voeten,·hypermobiele·distale·gewrichten,·typische·gelaatskenmerken·(schuin·naar·beneden·hellende·ooglidspleten,·mild·hypertelorisme,·prominente·ogen·en·weinig·periorbitaal·vet,·blauwachtige·sclerae,·en·microdontie·of·oligodontie),·spierhypotonie,·geassocieerd·met·significant·kleine·gestalte·met·aanvang·in·de·kindertijd,·oculaire·bevindingen·(myopie·en·keratoconus),·en,·in·zeldzamere·gevallen,·vasculaire·complicaties.·Er·werden·milde·radiografische·veranderingen·geobserveerd,·waarvan·platyspondylie·een·nuttig·diagnostisch·kenmerk·is.</Contents> |
| 171173 | ············</TextSection> | 171148 | ············</TextSection> |
| 171174 | ··········</TextSectionList> | 171149 | ··········</TextSectionList> |
| 171175 | ········</SummaryInformation> | 171150 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 175755 | ········</DisorderFlag> | 175730 | ········</DisorderFlag> |
| 175756 | ······</DisorderFlagList> | 175731 | ······</DisorderFlagList> |
| 175757 | ······<SynonymList·count="7"> | 175732 | ······<SynonymList·count="7"> |
| 175758 | ········<Synonym·lang="nl">BCD-syndroom</Synonym> | 175733 | ········<Synonym·lang="nl">BCD·syndroom</Synonym> |
| 175759 | ········<Synonym·lang="nl">Blefarocheilodontisch·syndroom</Synonym> | 175734 | ········<Synonym·lang="nl">Blefarocheilodontisch·syndroom</Synonym> |
| 175760 | ········<Synonym·lang="nl">Ectropion·inferior·-·gespleten·lip·en/of·verhemelte-syndroom</Synonym> | 175735 | ········<Synonym·lang="nl">Ectropion·inferior·-·gespleten·lip·en/of·verhemelte-syndroom</Synonym> |
| 175761 | ········<Synonym·lang="nl">Lagoftalmie·-·gespleten·lip·en·verhemelte-syndroom</Synonym> | 175736 | ········<Synonym·lang="nl">Lagoftalmie·-·gespleten·lip·en·verhemelte-syndroom</Synonym> |
| ⋮ | ⋮ |
| 175848 | ··············<TextSectionType·id="16907"> | 175823 | ··············<TextSectionType·id="16907"> |
| 175849 | ················<Name·lang="nl">Definitie·ziekte</Name> | 175824 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 175850 | ··············</TextSectionType> | 175825 | ··············</TextSectionType> |
| 175851 | ··············<Contents>Blefaro-cheilo-odontisch·syndroom·is·een·ectodermale·dysplasiesyndroom,·gekenmerkt·door·de·associatie·van·afwijkingen·van·de·oogleden,·lippen·en·tanden.</Contents> | 175826 | ··············<Contents>Een·zeldzaam·syndroom·van·ectodermale·dysplasie,·gekarakteriseerd·door·de·associatie·van·ectropion·van·onderste·ooglid,·distichiasis·van·bovenste·ooglid,·euryblefaron,·bilateraal·gespleten·lip·en·gehemelte,·en·kegelvormige·tanden.</Contents> |
| 175852 | ············</TextSection> | 175827 | ············</TextSection> |
| 175853 | ··········</TextSectionList> | 175828 | ··········</TextSectionList> |
| 175854 | ········</SummaryInformation> | 175829 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 177568 | ····<Disorder·id="19540"> | 177543 | ····<Disorder·id="19540"> |
| 177569 | ······<OrphaCode>247718</OrphaCode> | 177544 | ······<OrphaCode>247718</OrphaCode> |
| 177570 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=247718</ExpertLink> | 177545 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=247718</ExpertLink> |
| 177571 | ······<Name·lang="nl">Inflammatoire·myopathie·met·overvloedige·macrofagen</Name> | 177546 | ······<Name·lang="nl">Inflammatoire·myopathie·met·abundante·macrofagen</Name> |
| 177572 | ······<DisorderFlagList·count="1"> | 177547 | ······<DisorderFlagList·count="1"> |
| 177573 | ········<DisorderFlag·id="475"> | 177548 | ········<DisorderFlag·id="475"> |
| 177574 | ··········<Value>1</Value> | 177549 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 177919 | ······</DisorderFlagList> | 177894 | ······</DisorderFlagList> |
| 177920 | ······<SynonymList·count="5"> | 177895 | ······<SynonymList·count="5"> |
| 177921 | ········<Synonym·lang="nl">CTLN2</Synonym> | 177896 | ········<Synonym·lang="nl">CTLN2</Synonym> |
| 177922 | ········<Synonym·lang="nl">Citrinedeficiëntie,·aanvang·op·volwassen·leeftijd</Synonym> | 177897 | ········<Synonym·lang="nl">Citrinedeficiëntie·met·aanvang·op·volwassen·leeftijd</Synonym> |
| 177923 | ········<Synonym·lang="nl">Citrullinemie·type·2</Synonym> | 177898 | ········<Synonym·lang="nl">Citrullinemie·type·2</Synonym> |
| 177924 | ········<Synonym·lang="nl">Citrullinemie·type·2,·aanvang·op·volwassen·leeftijd</Synonym> | 177899 | ········<Synonym·lang="nl">Citrullinemie·type·2·met·aanvang·op·volwassen·leeftijd</Synonym> |
| 177925 | ········<Synonym·lang="nl">Citrullinemie·type·II,·aanvang·op·volwassen·leeftijd</Synonym> | 177900 | ········<Synonym·lang="nl">Citrullinemie·type·II·met·aanvang·op·volwassen·leeftijd</Synonym> |
| 177926 | ······</SynonymList> | 177901 | ······</SynonymList> |
| 177927 | ······<DisorderType·id="21394"> | 177902 | ······<DisorderType·id="21394"> |
| 177928 | ········<Name·lang="nl">Ziekte</Name> | 177903 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 178089 | ····<Disorder·id="19529"> | 178064 | ····<Disorder·id="19529"> |
| 178090 | ······<OrphaCode>247598</OrphaCode> | 178065 | ······<OrphaCode>247598</OrphaCode> |
| 178091 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=247598</ExpertLink> | 178066 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=247598</ExpertLink> |
| 178092 | ······<Name·lang="nl">Neonatale·intrahepatische·cholestase·door·citrinedeficiëntie</Name> | 178067 | ······<Name·lang="nl">Neonatale·intrahepatische·cholestase·door·deficiëntie·van·citrine</Name> |
| 178093 | ······<DisorderFlagList·count="1"> | 178068 | ······<DisorderFlagList·count="1"> |
| 178094 | ········<DisorderFlag·id="475"> | 178069 | ········<DisorderFlag·id="475"> |
| 178095 | ··········<Value>1</Value> | 178070 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 180426 | ······</ExternalReferenceList> | 180401 | ······</ExternalReferenceList> |
| 180427 | ······<DisorderDisorderAssociationList·count="0"> | 180402 | ······<DisorderDisorderAssociationList·count="0"> |
| 180428 | ······</DisorderDisorderAssociationList> | 180403 | ······</DisorderDisorderAssociationList> |
| 180429 | ······<SummaryInformationList·count="1"> | 180404 | ······<SummaryInformationList·count="0"> |
| 180430 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 180431 | ··········<TextSectionList·count="0"> | |
| 180432 | ··········</TextSectionList> | |
| 180433 | ··········<TextAuto> | |
| 180434 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 180435 | ··········</TextAuto> | |
| 180436 | ········</SummaryInformation> | |
| 180437 | ······</SummaryInformationList> | 180405 | ······</SummaryInformationList> |
| 180438 | ····</Disorder> | 180406 | ····</Disorder> |
| 180439 | ····<Disorder·id="2233"> | 180407 | ····<Disorder·id="2233"> |
| ⋮ | ⋮ |
| 180978 | ······</ExternalReferenceList> | 180946 | ······</ExternalReferenceList> |
| 180979 | ······<DisorderDisorderAssociationList·count="0"> | 180947 | ······<DisorderDisorderAssociationList·count="0"> |
| 180980 | ······</DisorderDisorderAssociationList> | 180948 | ······</DisorderDisorderAssociationList> |
| 180981 | ······<SummaryInformationList·count="1"> | 180949 | ······<SummaryInformationList·count="0"> |
| 180982 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 180983 | ··········<TextSectionList·count="0"> | |
| 180984 | ··········</TextSectionList> | |
| 180985 | ··········<TextAuto> | |
| 180986 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 180987 | ··········</TextAuto> | |
| 180988 | ········</SummaryInformation> | |
| 180989 | ······</SummaryInformationList> | 180950 | ······</SummaryInformationList> |
| 180990 | ····</Disorder> | 180951 | ····</Disorder> |
| 180991 | ····<Disorder·id="2227"> | 180952 | ····<Disorder·id="2227"> |
| ⋮ | ⋮ |
| 181280 | ······</ExternalReferenceList> | 181241 | ······</ExternalReferenceList> |
| 181281 | ······<DisorderDisorderAssociationList·count="0"> | 181242 | ······<DisorderDisorderAssociationList·count="0"> |
| 181282 | ······</DisorderDisorderAssociationList> | 181243 | ······</DisorderDisorderAssociationList> |
| 181283 | ······<SummaryInformationList·count="1"> | 181244 | ······<SummaryInformationList·count="0"> |
| 181284 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 181285 | ··········<TextSectionList·count="0"> | |
| 181286 | ··········</TextSectionList> | |
| 181287 | ··········<TextAuto> | |
| 181288 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 181289 | ··········</TextAuto> | |
| 181290 | ········</SummaryInformation> | |
| 181291 | ······</SummaryInformationList> | 181245 | ······</SummaryInformationList> |
| 181292 | ····</Disorder> | 181246 | ····</Disorder> |
| 181293 | ····<Disorder·id="19574"> | 181247 | ····<Disorder·id="19574"> |
| ⋮ | ⋮ |
| 181312 | ······</ExternalReferenceList> | 181266 | ······</ExternalReferenceList> |
| 181313 | ······<DisorderDisorderAssociationList·count="0"> | 181267 | ······<DisorderDisorderAssociationList·count="0"> |
| 181314 | ······</DisorderDisorderAssociationList> | 181268 | ······</DisorderDisorderAssociationList> |
| 181315 | ······<SummaryInformationList·count="1"> | 181269 | ······<SummaryInformationList·count="0"> |
| 181316 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 181317 | ··········<TextSectionList·count="0"> | |
| 181318 | ··········</TextSectionList> | |
| 181319 | ··········<TextAuto> | |
| 181320 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 181321 | ··········</TextAuto> | |
| 181322 | ········</SummaryInformation> | |
| 181323 | ······</SummaryInformationList> | 181270 | ······</SummaryInformationList> |
| 181324 | ····</Disorder> | 181271 | ····</Disorder> |
| 181325 | ····<Disorder·id="19573"> | 181272 | ····<Disorder·id="19573"> |
| ⋮ | ⋮ |
| 182457 | ··········<Label></Label> | 182404 | ··········<Label></Label> |
| 182458 | ········</DisorderFlag> | 182405 | ········</DisorderFlag> |
| 182459 | ······</DisorderFlagList> | 182406 | ······</DisorderFlagList> |
| 182460 | ······<SynonymList·count="2"> | 182407 | ······<SynonymList·count="3"> |
| 182461 | ········<Synonym·lang="nl">'Body-stalk'-anomalie</Synonym> | 182408 | ········<Synonym·lang="nl">'Body-stalk'-anomalie</Synonym> |
| | 182409 | ········<Synonym·lang="nl">'Limb·body·wall'-complex</Synonym> |
| 182462 | ········<Synonym·lang="nl">LBWC-syndroom</Synonym> | 182410 | ········<Synonym·lang="nl">LBWC-syndroom</Synonym> |
| 182463 | ······</SynonymList> | 182411 | ······</SynonymList> |
| 182464 | ······<DisorderType·id="21401"> | 182412 | ······<DisorderType·id="21401"> |
| ⋮ | ⋮ |
| 182923 | ······</ExternalReferenceList> | 182871 | ······</ExternalReferenceList> |
| 182924 | ······<DisorderDisorderAssociationList·count="0"> | 182872 | ······<DisorderDisorderAssociationList·count="0"> |
| 182925 | ······</DisorderDisorderAssociationList> | 182873 | ······</DisorderDisorderAssociationList> |
| 182926 | ······<SummaryInformationList·count="0"> | 182874 | ······<SummaryInformationList·count="1"> |
| | 182875 | ········<SummaryInformation·id="129132"·lang="nl"> |
| | 182876 | ··········<TextSectionList·count="1"> |
| | 182877 | ············<TextSection·id="167985"·lang="nl"> |
| | 182878 | ··············<TextSectionType·id="16907"> |
| | 182879 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 182880 | ··············</TextSectionType> |
| | 182881 | ··············<Contents>Een·zeldzame·X-gebonden·syndromale·intellectuele·achterstand,·gekarakteriseerd·door·congenitale·en·permanente·stembandverlamming·die·ernstige·congenitale·stridor·van·larynx·veroorzaakt,·geassocieerd·met·intellectuele·achterstand·bij·mannelijke·patiënten.·Mogelijke·andere·presenterende·symptomen·zijn·onder·meer·een·zwakke·kreet,·hoest,·cyanose,·neonatale·asfyxie,·voedingsproblemen,·aspiratie,·en·bronchiëctasie.·Microcefalie,·toonafwijkingen,·visuele·stoornissen·en·slechthorendheid·kunnen·ook·geassocieerde·kenmerken·zijn.</Contents> |
| | 182882 | ············</TextSection> |
| | 182883 | ··········</TextSectionList> |
| | 182884 | ········</SummaryInformation> |
| 182927 | ······</SummaryInformationList> | 182885 | ······</SummaryInformationList> |
| 182928 | ····</Disorder> | 182886 | ····</Disorder> |
| 182929 | ····<Disorder·id="19557"> | 182887 | ····<Disorder·id="19557"> |
| ⋮ | ⋮ |
| 183490 | ····<Disorder·id="19476"> | 183448 | ····<Disorder·id="19476"> |
| 183491 | ······<OrphaCode>244283</OrphaCode> | 183449 | ······<OrphaCode>244283</OrphaCode> |
| 183492 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=244283</ExpertLink> | 183450 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=244283</ExpertLink> |
| 183493 | ······<Name·lang="nl">Galatresie·met·miltmalformatiesyndroom</Name> | 183451 | ······<Name·lang="nl">Atresie·van·galwegen·met·malformatie·van·milt-syndroom</Name> |
| 183494 | ······<DisorderFlagList·count="1"> | 183452 | ······<DisorderFlagList·count="1"> |
| 183495 | ········<DisorderFlag·id="475"> | 183453 | ········<DisorderFlag·id="475"> |
| 183496 | ··········<Value>1</Value> | 183454 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 186945 | ······</ExternalReferenceList> | 186903 | ······</ExternalReferenceList> |
| 186946 | ······<DisorderDisorderAssociationList·count="0"> | 186904 | ······<DisorderDisorderAssociationList·count="0"> |
| 186947 | ······</DisorderDisorderAssociationList> | 186905 | ······</DisorderDisorderAssociationList> |
| 186948 | ······<SummaryInformationList·count="0"> | 186906 | ······<SummaryInformationList·count="1"> |
| | 186907 | ········<SummaryInformation·id="129160"·lang="nl"> |
| | 186908 | ··········<TextSectionList·count="1"> |
| | 186909 | ············<TextSection·id="168144"·lang="nl"> |
| | 186910 | ··············<TextSectionType·id="16907"> |
| | 186911 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 186912 | ··············</TextSectionType> |
| | 186913 | ··············<Contents>Een·zeldzaam,·genetisch·syndroom·met·multipele·congenitale·anomalieën,·gekarakteriseerd·door·abnormale·botmaturatie·met·skeletanomalieën,·obstructies·van·luchtwegen,·niet-gedijen,·ontwikkelingsachterstand,·matige·tot·ernstige·intellectuele·achterstand,·en·typische·gelaatskenmerken·met·macrocefalie,·prominent·voorhoofd,·ondiepe·oogkassen,·proptosis,·en·blauwe·sclerae.</Contents> |
| | 186914 | ············</TextSection> |
| | 186915 | ··········</TextSectionList> |
| | 186916 | ········</SummaryInformation> |
| 186949 | ······</SummaryInformationList> | 186917 | ······</SummaryInformationList> |
| 186950 | ····</Disorder> | 186918 | ····</Disorder> |
| 186951 | ····<Disorder·id="2278"> | 186919 | ····<Disorder·id="2278"> |
| ⋮ | ⋮ |
| 187177 | ········</DisorderFlag> | 187145 | ········</DisorderFlag> |
| 187178 | ······</DisorderFlagList> | 187146 | ······</DisorderFlagList> |
| 187179 | ······<SynonymList·count="2"> | 187147 | ······<SynonymList·count="2"> |
| 187180 | ········<Synonym·lang="nl">Marfanoïd·craniosynostosesyndroom</Synonym> | 187148 | ········<Synonym·lang="nl">Marfanoïde·craniosynostose-syndroom</Synonym> |
| 187181 | ········<Synonym·lang="nl">SGS</Synonym> | 187149 | ········<Synonym·lang="nl">SGS</Synonym> |
| 187182 | ······</SynonymList> | 187150 | ······</SynonymList> |
| 187183 | ······<DisorderType·id="21401"> | 187151 | ······<DisorderType·id="21401"> |
| ⋮ | ⋮ |
| 188044 | ······</ExternalReferenceList> | 188012 | ······</ExternalReferenceList> |
| 188045 | ······<DisorderDisorderAssociationList·count="0"> | 188013 | ······<DisorderDisorderAssociationList·count="0"> |
| 188046 | ······</DisorderDisorderAssociationList> | 188014 | ······</DisorderDisorderAssociationList> |
| 188047 | ······<SummaryInformationList·count="1"> | 188015 | ······<SummaryInformationList·count="0"> |
| 188048 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 188049 | ··········<TextSectionList·count="0"> | |
| 188050 | ··········</TextSectionList> | |
| 188051 | ··········<TextAuto> | |
| 188052 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 188053 | ··········</TextAuto> | |
| 188054 | ········</SummaryInformation> | |
| 188055 | ······</SummaryInformationList> | 188016 | ······</SummaryInformationList> |
| 188056 | ····</Disorder> | 188017 | ····</Disorder> |
| 188057 | ····<Disorder·id="2071"> | 188018 | ····<Disorder·id="2071"> |
| ⋮ | ⋮ |
| 188464 | ······</ExternalReferenceList> | 188425 | ······</ExternalReferenceList> |
| 188465 | ······<DisorderDisorderAssociationList·count="0"> | 188426 | ······<DisorderDisorderAssociationList·count="0"> |
| 188466 | ······</DisorderDisorderAssociationList> | 188427 | ······</DisorderDisorderAssociationList> |
| 188467 | ······<SummaryInformationList·count="1"> | 188428 | ······<SummaryInformationList·count="0"> |
| 188468 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 188469 | ··········<TextSectionList·count="0"> | |
| 188470 | ··········</TextSectionList> | |
| 188471 | ··········<TextAuto> | |
| 188472 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 188473 | ··········</TextAuto> | |
| 188474 | ········</SummaryInformation> | |
| 188475 | ······</SummaryInformationList> | 188429 | ······</SummaryInformationList> |
| 188476 | ····</Disorder> | 188430 | ····</Disorder> |
| 188477 | ····<Disorder·id="19674"> | 188431 | ····<Disorder·id="19674"> |
| ⋮ | ⋮ |
| 189141 | ······</ExternalReferenceList> | 189095 | ······</ExternalReferenceList> |
| 189142 | ······<DisorderDisorderAssociationList·count="0"> | 189096 | ······<DisorderDisorderAssociationList·count="0"> |
| 189143 | ······</DisorderDisorderAssociationList> | 189097 | ······</DisorderDisorderAssociationList> |
| 189144 | ······<SummaryInformationList·count="1"> | 189098 | ······<SummaryInformationList·count="0"> |
| 189145 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 189146 | ··········<TextSectionList·count="0"> | |
| 189147 | ··········</TextSectionList> | |
| 189148 | ··········<TextAuto> | |
| 189149 | ············<Info·lang="nl">Deze·ziekte·is·niet·zeldzaam·in·Europa.·De·ziekte·maakt·geen·deel·uit·van·de·nomenclatuur·van·zeldzame·ziekten·van·Orphanet.</Info> | |
| 189150 | ··········</TextAuto> | |
| 189151 | ········</SummaryInformation> | |
| 189152 | ······</SummaryInformationList> | 189099 | ······</SummaryInformationList> |
| 189153 | ····</Disorder> | 189100 | ····</Disorder> |
| 189154 | ····<Disorder·id="19648"> | 189101 | ····<Disorder·id="19648"> |
| ⋮ | ⋮ |
| 189173 | ······</ExternalReferenceList> | 189120 | ······</ExternalReferenceList> |
| 189174 | ······<DisorderDisorderAssociationList·count="0"> | 189121 | ······<DisorderDisorderAssociationList·count="0"> |
| 189175 | ······</DisorderDisorderAssociationList> | 189122 | ······</DisorderDisorderAssociationList> |
| 189176 | ······<SummaryInformationList·count="1"> | 189123 | ······<SummaryInformationList·count="0"> |
| 189177 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 189178 | ··········<TextSectionList·count="0"> | |
| 189179 | ··········</TextSectionList> | |
| 189180 | ··········<TextAuto> | |
| 189181 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 189182 | ··········</TextAuto> | |
| 189183 | ········</SummaryInformation> | |
| 189184 | ······</SummaryInformationList> | 189124 | ······</SummaryInformationList> |
| 189185 | ····</Disorder> | 189125 | ····</Disorder> |
| 189186 | ····<Disorder·id="2050"> | 189126 | ····<Disorder·id="2050"> |
| ⋮ | ⋮ |
| 189636 | ······</ExternalReferenceList> | 189576 | ······</ExternalReferenceList> |
| 189637 | ······<DisorderDisorderAssociationList·count="0"> | 189577 | ······<DisorderDisorderAssociationList·count="0"> |
| 189638 | ······</DisorderDisorderAssociationList> | 189578 | ······</DisorderDisorderAssociationList> |
| 189639 | ······<SummaryInformationList·count="1"> | 189579 | ······<SummaryInformationList·count="0"> |
| 189640 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 189641 | ··········<TextSectionList·count="0"> | |
| 189642 | ··········</TextSectionList> | |
| 189643 | ··········<TextAuto> | |
| 189644 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 189645 | ··········</TextAuto> | |
| 189646 | ········</SummaryInformation> | |
| 189647 | ······</SummaryInformationList> | 189580 | ······</SummaryInformationList> |
| 189648 | ····</Disorder> | 189581 | ····</Disorder> |
| 189649 | ····<Disorder·id="19652"> | 189582 | ····<Disorder·id="19652"> |
| ⋮ | ⋮ |
| 195633 | ··········<TargetDisorder·id="2130"·cycle="true"/> | 195566 | ··········<TargetDisorder·id="2130"·cycle="true"/> |
| 195634 | ··········<RootDisorder·id="500"> | 195567 | ··········<RootDisorder·id="500"> |
| 195635 | ············<OrphaCode>2113</OrphaCode> | 195568 | ············<OrphaCode>2113</OrphaCode> |
| 195636 | ············<Name·lang="nl">Congenitaal·hypothalamisch·hamartoomsyndroom</Name> | 195569 | ············<Name·lang="nl">Congenitaal·hamartoom·van·hypothalamus-syndroom</Name> |
| 195637 | ··········</RootDisorder> | 195570 | ··········</RootDisorder> |
| 195638 | ··········<DisorderDisorderAssociationType·id="21471"> | 195571 | ··········<DisorderDisorderAssociationType·id="21471"> |
| 195639 | ············<Name·lang="nl">Verplaatst·naar</Name> | 195572 | ············<Name·lang="nl">Verplaatst·naar</Name> |
| ⋮ | ⋮ |
| 201606 | ····<Disorder·id="2153"> | 201539 | ····<Disorder·id="2153"> |
| 201607 | ······<OrphaCode>2286</OrphaCode> | 201540 | ······<OrphaCode>2286</OrphaCode> |
| 201608 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=2286</ExpertLink> | 201541 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=2286</ExpertLink> |
| 201609 | ······<Name·lang="nl">OBSOLEET:·Solitaire·mediaan-maxillaire·centrale·snijtand-syndroom</Name> | 201542 | ······<Name·lang="nl">OBSOLEET:·Solitaire·mediane·maxillaire·centrale·incisief-syndroom</Name> |
| 201610 | ······<DisorderFlagList·count="2"> | 201543 | ······<DisorderFlagList·count="2"> |
| 201611 | ········<DisorderFlag·id="495"> | 201544 | ········<DisorderFlag·id="495"> |
| 201612 | ··········<Value>8192</Value> | 201545 | ··········<Value>8192</Value> |
| ⋮ | ⋮ |
| 201654 | ····<Disorder·id="19624"> | 201587 | ····<Disorder·id="19624"> |
| 201655 | ······<OrphaCode>251304</OrphaCode> | 201588 | ······<OrphaCode>251304</OrphaCode> |
| 201656 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=251304</ExpertLink> | 201589 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=251304</ExpertLink> |
| 201657 | ······<Name·lang="nl">Panniculitis·met·uveïtis·en·systemische·granulomatose·met·infantiele·aanvang</Name> | 201590 | ······<Name·lang="nl">Infantiele·panniculitis·met·uveïtis·en·systemische·granulomatose</Name> |
| 201658 | ······<DisorderFlagList·count="1"> | 201591 | ······<DisorderFlagList·count="1"> |
| 201659 | ········<DisorderFlag·id="475"> | 201592 | ········<DisorderFlag·id="475"> |
| 201660 | ··········<Value>1</Value> | 201593 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 204627 | ········<DisorderDisorderAssociation> | 204560 | ········<DisorderDisorderAssociation> |
| 204628 | ··········<TargetDisorder·id="1461"> | 204561 | ··········<TargetDisorder·id="1461"> |
| 204629 | ············<OrphaCode>1215</OrphaCode> | 204562 | ············<OrphaCode>1215</OrphaCode> |
| 204630 | ············<Name·lang="nl">Autosomaal·dominante·opticusatrofie-plus·syndroom</Name> | 204563 | ············<Name·lang="nl">Autosomaal·dominante·opticusatrofie·plus-syndroom</Name> |
| 204631 | ··········</TargetDisorder> | 204564 | ··········</TargetDisorder> |
| 204632 | ··········<RootDisorder·id="19804"·cycle="true"/> | 204565 | ··········<RootDisorder·id="19804"·cycle="true"/> |
| 204633 | ··········<DisorderDisorderAssociationType·id="27341"> | 204566 | ··········<DisorderDisorderAssociationType·id="27341"> |
| ⋮ | ⋮ |
| 205657 | ····<Disorder·id="2473"> | 205590 | ····<Disorder·id="2473"> |
| 205658 | ······<OrphaCode>2712</OrphaCode> | 205591 | ······<OrphaCode>2712</OrphaCode> |
| 205659 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=2712</ExpertLink> | 205592 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=2712</ExpertLink> |
| 205660 | ······<Name·lang="nl">Oculo-facio-cardio-dentaal·syndroom</Name> | 205593 | ······<Name·lang="nl">Oculofaciocardiodentaal·syndroom</Name> |
| 205661 | ······<DisorderFlagList·count="1"> | 205594 | ······<DisorderFlagList·count="1"> |
| 205662 | ········<DisorderFlag·id="475"> | 205595 | ········<DisorderFlag·id="475"> |
| 205663 | ··········<Value>1</Value> | 205596 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 208816 | ····<Disorder·id="19722"> | 208749 | ····<Disorder·id="19722"> |
| 208817 | ······<OrphaCode>252128</OrphaCode> | 208750 | ······<OrphaCode>252128</OrphaCode> |
| 208818 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=252128</ExpertLink> | 208751 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=252128</ExpertLink> |
| 208819 | ······<Name·lang="nl">Maligne·perifere·zenuwschedetumor·met·perineuriale·differentiatie</Name> | 208752 | ······<Name·lang="nl">Maligne·tumor·van·perifere·zenuwschede·met·perineuriale·differentiatie</Name> |
| 208820 | ······<DisorderFlagList·count="1"> | 208753 | ······<DisorderFlagList·count="1"> |
| 208821 | ········<DisorderFlag·id="475"> | 208754 | ········<DisorderFlag·id="475"> |
| 208822 | ··········<Value>1</Value> | 208755 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 208984 | ····<Disorder·id="19723"> | 208917 | ····<Disorder·id="19723"> |
| 208985 | ······<OrphaCode>252131</OrphaCode> | 208918 | ······<OrphaCode>252131</OrphaCode> |
| 208986 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=252131</ExpertLink> | 208919 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=252131</ExpertLink> |
| 208987 | ······<Name·lang="nl">Goedaardige·perifere·zenuwschedetumor</Name> | 208920 | ······<Name·lang="nl">Goedaardige·tumor·van·perifere·zenuwschede</Name> |
| 208988 | ······<DisorderFlagList·count="1"> | 208921 | ······<DisorderFlagList·count="1"> |
| 208989 | ········<DisorderFlag·id="475"> | 208922 | ········<DisorderFlag·id="475"> |
| 208990 | ··········<Value>1</Value> | 208923 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 209346 | ····<Disorder·id="2501"> | 209279 | ····<Disorder·id="2501"> |
| 209347 | ······<OrphaCode>2741</OrphaCode> | 209280 | ······<OrphaCode>2741</OrphaCode> |
| 209348 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=2741</ExpertLink> | 209281 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=2741</ExpertLink> |
| 209349 | ······<Name·lang="nl">Oftalmomandibulomelische·dysplasie</Name> | 209282 | ······<Name·lang="nl">Oftalmomandibulomele·dysplasie</Name> |
| 209350 | ······<DisorderFlagList·count="1"> | 209283 | ······<DisorderFlagList·count="1"> |
| 209351 | ········<DisorderFlag·id="475"> | 209284 | ········<DisorderFlag·id="475"> |
| 209352 | ··········<Value>1</Value> | 209285 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 209355 | ······</DisorderFlagList> | 209288 | ······</DisorderFlagList> |
| 209356 | ······<SynonymList·count="2"> | 209289 | ······<SynonymList·count="2"> |
| 209357 | ········<Synonym·lang="nl">OMM-syndroom</Synonym> | 209290 | ········<Synonym·lang="nl">OMM-syndroom</Synonym> |
| 209358 | ········<Synonym·lang="nl">Pillaysyndroom</Synonym> | 209291 | ········<Synonym·lang="nl">Syndroom·van·Pillay</Synonym> |
| 209359 | ······</SynonymList> | 209292 | ······</SynonymList> |
| 209360 | ······<DisorderType·id="21401"> | 209293 | ······<DisorderType·id="21401"> |
| 209361 | ········<Name·lang="nl">Malformatiesyndroom</Name> | 209294 | ········<Name·lang="nl">Malformatiesyndroom</Name> |
| ⋮ | ⋮ |
| 209931 | ······</ExternalReferenceList> | 209864 | ······</ExternalReferenceList> |
| 209932 | ······<DisorderDisorderAssociationList·count="0"> | 209865 | ······<DisorderDisorderAssociationList·count="0"> |
| 209933 | ······</DisorderDisorderAssociationList> | 209866 | ······</DisorderDisorderAssociationList> |
| 209934 | ······<SummaryInformationList·count="0"> | 209867 | ······<SummaryInformationList·count="1"> |
| | 209868 | ········<SummaryInformation·id="128990"·lang="nl"> |
| | 209869 | ··········<TextSectionList·count="1"> |
| | 209870 | ············<TextSection·id="167914"·lang="nl"> |
| | 209871 | ··············<TextSectionType·id="16907"> |
| | 209872 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 209873 | ··············</TextSectionType> |
| | 209874 | ··············<Contents>Een·zeldzaam·syndroom·met·multipele·congenitale·anomalieën/dysmorfie,·gekarakteriseerd·door·de·associatie·van·omfalocele·en·gespleten·verhemelte.·Overige·kenmerken·die·werden·gerapporteerd,·zijn·onder·meer·gespleten·lip,·gespleten·uvula,·bilaterale·talipes·equinovarus·(klompvoet),·uterus·bicornis,·en·hydrocephalus·internus.·De·aandoening·is·letaal·in·de·zuigelingentijd.</Contents> |
| | 209875 | ············</TextSection> |
| | 209876 | ··········</TextSectionList> |
| | 209877 | ········</SummaryInformation> |
| 209935 | ······</SummaryInformationList> | 209878 | ······</SummaryInformationList> |
| 209936 | ····</Disorder> | 209879 | ····</Disorder> |
| 209937 | ····<Disorder·id="19713"> | 209880 | ····<Disorder·id="19713"> |
| ⋮ | ⋮ |
| 211242 | ········<Synonym·lang="nl">Kwaadaardige·tritontumor</Synonym> | 211185 | ········<Synonym·lang="nl">Kwaadaardige·tritontumor</Synonym> |
| 211243 | ········<Synonym·lang="nl">MPNST·met·rhabdomyosarcomateuze·differentiatie</Synonym> | 211186 | ········<Synonym·lang="nl">MPNST·met·rhabdomyosarcomateuze·differentiatie</Synonym> |
| 211244 | ········<Synonym·lang="nl">MTT</Synonym> | 211187 | ········<Synonym·lang="nl">MTT</Synonym> |
| 211245 | ········<Synonym·lang="nl">Maligne·perifere·zenuwschedetumor·met·rhabdomyosarcomateuze·differentiatie</Synonym> | 211188 | ········<Synonym·lang="nl">Maligne·tumor·van·perifere·zenuwschede·met·rhabdomyosarcomateuze·differentiatie</Synonym> |
| 211246 | ······</SynonymList> | 211189 | ······</SynonymList> |
| 211247 | ······<DisorderType·id="21457"> | 211190 | ······<DisorderType·id="21457"> |
| 211248 | ········<Name·lang="nl">Histopathologisch·subtype</Name> | 211191 | ········<Name·lang="nl">Histopathologisch·subtype</Name> |
| ⋮ | ⋮ |
| 211459 | ····<Disorder·id="19731"> | 211402 | ····<Disorder·id="19731"> |
| 211460 | ······<OrphaCode>252202</OrphaCode> | 211403 | ······<OrphaCode>252202</OrphaCode> |
| 211461 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=252202</ExpertLink> | 211404 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=252202</ExpertLink> |
| 211462 | ······<Name·lang="nl">Constitutionele·mismatch-repair-deficiëntiesyndroom</Name> | 211405 | ······<Name·lang="nl">Constitutionele·'mismatch·repair'-deficiëntie-syndroom</Name> |
| 211463 | ······<DisorderFlagList·count="1"> | 211406 | ······<DisorderFlagList·count="1"> |
| 211464 | ········<DisorderFlag·id="475"> | 211407 | ········<DisorderFlag·id="475"> |
| 211465 | ··········<Value>1</Value> | 211408 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 214497 | ··········</DisorderDisorderAssociationType> | 214440 | ··········</DisorderDisorderAssociationType> |
| 214498 | ········</DisorderDisorderAssociation> | 214441 | ········</DisorderDisorderAssociation> |
| 214499 | ······</DisorderDisorderAssociationList> | 214442 | ······</DisorderDisorderAssociationList> |
| 214500 | ······<SummaryInformationList·count="1"> | 214443 | ······<SummaryInformationList·count="0"> |
| 214501 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 214502 | ··········<TextSectionList·count="0"> | |
| 214503 | ··········</TextSectionList> | |
| 214504 | ··········<TextAuto> | |
| 214505 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 214506 | ··········</TextAuto> | |
| 214507 | ········</SummaryInformation> | |
| 214508 | ······</SummaryInformationList> | 214444 | ······</SummaryInformationList> |
| 214509 | ····</Disorder> | 214445 | ····</Disorder> |
| 214510 | ····<Disorder·id="2558"> | 214446 | ····<Disorder·id="2558"> |
| ⋮ | ⋮ |
| 214716 | ······</ExternalReferenceList> | 214652 | ······</ExternalReferenceList> |
| 214717 | ······<DisorderDisorderAssociationList·count="0"> | 214653 | ······<DisorderDisorderAssociationList·count="0"> |
| 214718 | ······</DisorderDisorderAssociationList> | 214654 | ······</DisorderDisorderAssociationList> |
| 214719 | ······<SummaryInformationList·count="1"> | 214655 | ······<SummaryInformationList·count="0"> |
| 214720 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 214721 | ··········<TextSectionList·count="0"> | |
| 214722 | ··········</TextSectionList> | |
| 214723 | ··········<TextAuto> | |
| 214724 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 214725 | ··········</TextAuto> | |
| 214726 | ········</SummaryInformation> | |
| 214727 | ······</SummaryInformationList> | 214656 | ······</SummaryInformationList> |
| 214728 | ····</Disorder> | 214657 | ····</Disorder> |
| 214729 | ····<Disorder·id="19769"> | 214658 | ····<Disorder·id="19769"> |
| ⋮ | ⋮ |
| 216130 | ······</ExternalReferenceList> | 216059 | ······</ExternalReferenceList> |
| 216131 | ······<DisorderDisorderAssociationList·count="0"> | 216060 | ······<DisorderDisorderAssociationList·count="0"> |
| 216132 | ······</DisorderDisorderAssociationList> | 216061 | ······</DisorderDisorderAssociationList> |
| 216133 | ······<SummaryInformationList·count="0"> | 216062 | ······<SummaryInformationList·count="1"> |
| | 216063 | ········<SummaryInformation·id="128998"·lang="nl"> |
| | 216064 | ··········<TextSectionList·count="1"> |
| | 216065 | ············<TextSection·id="167922"·lang="nl"> |
| | 216066 | ··············<TextSectionType·id="16907"> |
| | 216067 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 216068 | ··············</TextSectionType> |
| | 216069 | ··············<Contents>Een·zeldzaam·syndroom·met·multipele·congenitale·anomalieën/dysmorfie,·gekarakteriseerd·door·matige·tot·ernstige·intellectuele·achterstand,·neurologische·verschijnselen·en·symptomen·(zoals·insulten,·spasticiteit,·strabisme),·typische·dysmorfe·gelaatskenmerken·(waaronder·breed·voorhoofd,·hypertelorisme,·schuin·naar·beneden·hellende·ooglidspleten,·brede·en·platte·neusbrug,·mediane·inkeping·van·bovenlip,·afwezigheid·van·bovenste·centrale·snijtanden,·onvolledige·orale·spleet,·en·prominente·onderkaak),·en·littekens·van·acne.·Slechthorendheid,·pseudobulbaire·paralyse,·groeiretardatie,·en·skeletanomalieën·(camptodactylie,·clinodactylie,·bilaterale·cubitus·valgus,·holvoet/platvoet)·werden·ook·reeds·beschreven.</Contents> |
| | 216070 | ············</TextSection> |
| | 216071 | ··········</TextSectionList> |
| | 216072 | ········</SummaryInformation> |
| 216134 | ······</SummaryInformationList> | 216073 | ······</SummaryInformationList> |
| 216135 | ····</Disorder> | 216074 | ····</Disorder> |
| 216136 | ····<Disorder·id="19762"> | 216075 | ····<Disorder·id="19762"> |
| 216137 | ······<OrphaCode>254685</OrphaCode> | 216076 | ······<OrphaCode>254685</OrphaCode> |
| 216138 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=254685</ExpertLink> | 216077 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=254685</ExpertLink> |
| 216139 | ······<Name·lang="nl">Gestationele·trofoblastische·ziekte</Name> | 216078 | ······<Name·lang="nl">Gestationele·trofoblastziekte</Name> |
| 216140 | ······<DisorderFlagList·count="1"> | 216079 | ······<DisorderFlagList·count="1"> |
| 216141 | ········<DisorderFlag·id="475"> | 216080 | ········<DisorderFlag·id="475"> |
| 216142 | ··········<Value>1</Value> | 216081 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 217073 | ··········<Label></Label> | 217012 | ··········<Label></Label> |
| 217074 | ········</DisorderFlag> | 217013 | ········</DisorderFlag> |
| 217075 | ······</DisorderFlagList> | 217014 | ······</DisorderFlagList> |
| 217076 | ······<SynonymList·count="3"> | 217015 | ······<SynonymList·count="4"> |
| | 217016 | ········<Synonym·lang="nl">Acrogeria</Synonym> |
| 217077 | ········<Synonym·lang="nl">Acrogerie,·Gottron-type</Synonym> | 217017 | ········<Synonym·lang="nl">Acrogerie,·Gottron-type</Synonym> |
| 217078 | ········<Synonym·lang="nl">Acrometagerie</Synonym> | 217018 | ········<Synonym·lang="nl">Acrometagerie</Synonym> |
| 217079 | ········<Synonym·lang="nl">Gottronsyndroom</Synonym> | 217019 | ········<Synonym·lang="nl">Syndroom·van·Gottron</Synonym> |
| 217080 | ······</SynonymList> | 217020 | ······</SynonymList> |
| 217081 | ······<DisorderType·id="21401"> | 217021 | ······<DisorderType·id="21401"> |
| 217082 | ········<Name·lang="nl">Malformatiesyndroom</Name> | 217022 | ········<Name·lang="nl">Malformatiesyndroom</Name> |
| ⋮ | ⋮ |
| 221235 | ········<Synonym·lang="nl">MCOPS7</Synonym> | 221175 | ········<Synonym·lang="nl">MCOPS7</Synonym> |
| 221236 | ········<Synonym·lang="nl">MIDAS-syndroom</Synonym> | 221176 | ········<Synonym·lang="nl">MIDAS-syndroom</Synonym> |
| 221237 | ········<Synonym·lang="nl">MLS-syndroom</Synonym> | 221177 | ········<Synonym·lang="nl">MLS-syndroom</Synonym> |
| 221238 | ········<Synonym·lang="nl">Microftalmie·-·dermale·aplasie·-·sclerocornea</Synonym> | 221178 | ········<Synonym·lang="nl">Microftalmie·-·dermale·aplasie·-·sclerocornea-syndroom</Synonym> |
| 221239 | ········<Synonym·lang="nl">Syndromale·microftalmie·type·7</Synonym> | 221179 | ········<Synonym·lang="nl">Syndromale·microftalmie·type·7</Synonym> |
| 221240 | ······</SynonymList> | 221180 | ······</SynonymList> |
| 221241 | ······<DisorderType·id="21401"> | 221181 | ······<DisorderType·id="21401"> |
| ⋮ | ⋮ |
| 228401 | ····<Disorder·id="19899"> | 228341 | ····<Disorder·id="19899"> |
| 228402 | ······<OrphaCode>261652</OrphaCode> | 228342 | ······<OrphaCode>261652</OrphaCode> |
| 228403 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=261652</ExpertLink> | 228343 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=261652</ExpertLink> |
| 228404 | ······<Name·lang="nl">Syndroom·van·Kleefstra·als·gevolg·van·een·puntmutatie</Name> | 228344 | ······<Name·lang="nl">Syndroom·van·Kleefstra·door·puntmutatie</Name> |
| 228405 | ······<DisorderFlagList·count="1"> | 228345 | ······<DisorderFlagList·count="1"> |
| 228406 | ········<DisorderFlag·id="475"> | 228346 | ········<DisorderFlag·id="475"> |
| 228407 | ··········<Value>1</Value> | 228347 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 230758 | ····<Disorder·id="20068"> | 230698 | ····<Disorder·id="20068"> |
| 230759 | ······<OrphaCode>263534</OrphaCode> | 230699 | ······<OrphaCode>263534</OrphaCode> |
| 230760 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=263534</ExpertLink> | 230700 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=263534</ExpertLink> |
| 230761 | ······<Name·lang="nl">Acrale·peeling·skin-syndroom</Name> | 230701 | ······<Name·lang="nl">Acrale·'peeling·skin'-syndroom</Name> |
| 230762 | ······<DisorderFlagList·count="1"> | 230702 | ······<DisorderFlagList·count="1"> |
| 230763 | ········<DisorderFlag·id="475"> | 230703 | ········<DisorderFlag·id="475"> |
| 230764 | ··········<Value>1</Value> | 230704 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 238172 | ····<Disorder·id="2769"> | 238112 | ····<Disorder·id="2769"> |
| 238173 | ······<OrphaCode>3086</OrphaCode> | 238113 | ······<OrphaCode>3086</OrphaCode> |
| 238174 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=3086</ExpertLink> | 238114 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=3086</ExpertLink> |
| 238175 | ······<Name·lang="nl">Autosomaal·dominante·vitreoretinale·choroidopathie</Name> | 238115 | ······<Name·lang="nl">Autosomaal·dominante·vitreoretinochoroïdopathie</Name> |
| 238176 | ······<DisorderFlagList·count="1"> | 238116 | ······<DisorderFlagList·count="1"> |
| 238177 | ········<DisorderFlag·id="475"> | 238117 | ········<DisorderFlag·id="475"> |
| 238178 | ··········<Value>1</Value> | 238118 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 242280 | ······</ExternalReferenceList> | 242220 | ······</ExternalReferenceList> |
| 242281 | ······<DisorderDisorderAssociationList·count="0"> | 242221 | ······<DisorderDisorderAssociationList·count="0"> |
| 242282 | ······</DisorderDisorderAssociationList> | 242222 | ······</DisorderDisorderAssociationList> |
| 242283 | ······<SummaryInformationList·count="1"> | 242223 | ······<SummaryInformationList·count="0"> |
| 242284 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 242285 | ··········<TextSectionList·count="0"> | |
| 242286 | ··········</TextSectionList> | |
| 242287 | ··········<TextAuto> | |
| 242288 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 242289 | ··········</TextAuto> | |
| 242290 | ········</SummaryInformation> | |
| 242291 | ······</SummaryInformationList> | 242224 | ······</SummaryInformationList> |
| 242292 | ····</Disorder> | 242225 | ····</Disorder> |
| 242293 | ····<Disorder·id="20192"> | 242226 | ····<Disorder·id="20192"> |
| ⋮ | ⋮ |
| 244166 | ······</ExternalReferenceList> | 244099 | ······</ExternalReferenceList> |
| 244167 | ······<DisorderDisorderAssociationList·count="0"> | 244100 | ······<DisorderDisorderAssociationList·count="0"> |
| 244168 | ······</DisorderDisorderAssociationList> | 244101 | ······</DisorderDisorderAssociationList> |
| 244169 | ······<SummaryInformationList·count="1"> | 244102 | ······<SummaryInformationList·count="0"> |
| 244170 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 244171 | ··········<TextSectionList·count="0"> | |
| 244172 | ··········</TextSectionList> | |
| 244173 | ··········<TextAuto> | |
| 244174 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 244175 | ··········</TextAuto> | |
| 244176 | ········</SummaryInformation> | |
| 244177 | ······</SummaryInformationList> | 244103 | ······</SummaryInformationList> |
| 244178 | ····</Disorder> | 244104 | ····</Disorder> |
| 244179 | ····<Disorder·id="20188"> | 244105 | ····<Disorder·id="20188"> |
| ⋮ | ⋮ |
| 245418 | ····<Disorder·id="20166"> | 245344 | ····<Disorder·id="20166"> |
| 245419 | ······<OrphaCode>268129</OrphaCode> | 245345 | ······<OrphaCode>268129</OrphaCode> |
| 245420 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=268129</ExpertLink> | 245346 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=268129</ExpertLink> |
| 245421 | ······<Name·lang="nl">Spheroid-body-myopathie</Name> | 245347 | ······<Name·lang="nl">'Spheroid·body'-myopathie</Name> |
| 245422 | ······<DisorderFlagList·count="1"> | 245348 | ······<DisorderFlagList·count="1"> |
| 245423 | ········<DisorderFlag·id="475"> | 245349 | ········<DisorderFlag·id="475"> |
| 245424 | ··········<Value>1</Value> | 245350 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 246684 | ····<Disorder·id="2571"> | 246610 | ····<Disorder·id="2571"> |
| 246685 | ······<OrphaCode>2834</OrphaCode> | 246611 | ······<OrphaCode>2834</OrphaCode> |
| 246686 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=2834</ExpertLink> | 246612 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=2834</ExpertLink> |
| 246687 | ······<Name·lang="nl">Gerimpelde·huidsyndroom</Name> | 246613 | ······<Name·lang="nl">Rimpelige·huid-syndroom</Name> |
| 246688 | ······<DisorderFlagList·count="1"> | 246614 | ······<DisorderFlagList·count="1"> |
| 246689 | ········<DisorderFlag·id="475"> | 246615 | ········<DisorderFlag·id="475"> |
| 246690 | ··········<Value>1</Value> | 246616 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 246692 | ········</DisorderFlag> | 246618 | ········</DisorderFlag> |
| 246693 | ······</DisorderFlagList> | 246619 | ······</DisorderFlagList> |
| 246694 | ······<SynonymList·count="3"> | 246620 | ······<SynonymList·count="3"> |
| 246695 | ········<Synonym·lang="nl">Rimpelige·huidsyndroom</Synonym> | 246621 | ········<Synonym·lang="nl">'Wrinkly·skin'-syndroom</Synonym> |
| | 246622 | ········<Synonym·lang="nl">Gerimpelde·huid-syndroom</Synonym> |
| 246696 | ········<Synonym·lang="nl">WSS</Synonym> | 246623 | ········<Synonym·lang="nl">WSS</Synonym> |
| 246697 | ········<Synonym·lang="nl">Wrinkly·skin·syndroom</Synonym> | |
| 246698 | ······</SynonymList> | 246624 | ······</SynonymList> |
| 246699 | ······<DisorderType·id="21450"> | 246625 | ······<DisorderType·id="21450"> |
| 246700 | ········<Name·lang="nl">Klinisch·subtype</Name> | 246626 | ········<Name·lang="nl">Klinisch·subtype</Name> |
| ⋮ | ⋮ |
| 249027 | ······</ExternalReferenceList> | 248953 | ······</ExternalReferenceList> |
| 249028 | ······<DisorderDisorderAssociationList·count="0"> | 248954 | ······<DisorderDisorderAssociationList·count="0"> |
| 249029 | ······</DisorderDisorderAssociationList> | 248955 | ······</DisorderDisorderAssociationList> |
| 249030 | ······<SummaryInformationList·count="1"> | 248956 | ······<SummaryInformationList·count="0"> |
| 249031 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 249032 | ··········<TextSectionList·count="0"> | |
| 249033 | ··········</TextSectionList> | |
| 249034 | ··········<TextAuto> | |
| 249035 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 249036 | ··········</TextAuto> | |
| 249037 | ········</SummaryInformation> | |
| 249038 | ······</SummaryInformationList> | 248957 | ······</SummaryInformationList> |
| 249039 | ····</Disorder> | 248958 | ····</Disorder> |
| 249040 | ····<Disorder·id="20113"> | 248959 | ····<Disorder·id="20113"> |
| ⋮ | ⋮ |
| 250943 | ······</ExternalReferenceList> | 250862 | ······</ExternalReferenceList> |
| 250944 | ······<DisorderDisorderAssociationList·count="0"> | 250863 | ······<DisorderDisorderAssociationList·count="0"> |
| 250945 | ······</DisorderDisorderAssociationList> | 250864 | ······</DisorderDisorderAssociationList> |
| 250946 | ······<SummaryInformationList·count="1"> | 250865 | ······<SummaryInformationList·count="0"> |
| 250947 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 250948 | ··········<TextSectionList·count="0"> | |
| 250949 | ··········</TextSectionList> | |
| 250950 | ··········<TextAuto> | |
| 250951 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 250952 | ··········</TextAuto> | |
| 250953 | ········</SummaryInformation> | |
| 250954 | ······</SummaryInformationList> | 250866 | ······</SummaryInformationList> |
| 250955 | ····</Disorder> | 250867 | ····</Disorder> |
| 250956 | ····<Disorder·id="2634"> | 250868 | ····<Disorder·id="2634"> |
| ⋮ | ⋮ |
| 251050 | ······</ExternalReferenceList> | 250962 | ······</ExternalReferenceList> |
| 251051 | ······<DisorderDisorderAssociationList·count="0"> | 250963 | ······<DisorderDisorderAssociationList·count="0"> |
| 251052 | ······</DisorderDisorderAssociationList> | 250964 | ······</DisorderDisorderAssociationList> |
| 251053 | ······<SummaryInformationList·count="1"> | 250965 | ······<SummaryInformationList·count="0"> |
| 251054 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 251055 | ··········<TextSectionList·count="0"> | |
| 251056 | ··········</TextSectionList> | |
| 251057 | ··········<TextAuto> | |
| 251058 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 251059 | ··········</TextAuto> | |
| 251060 | ········</SummaryInformation> | |
| 251061 | ······</SummaryInformationList> | 250966 | ······</SummaryInformationList> |
| 251062 | ····</Disorder> | 250967 | ····</Disorder> |
| 251063 | ····<Disorder·id="2635"> | 250968 | ····<Disorder·id="2635"> |
| ⋮ | ⋮ |
| 251180 | ······</ExternalReferenceList> | 251085 | ······</ExternalReferenceList> |
| 251181 | ······<DisorderDisorderAssociationList·count="0"> | 251086 | ······<DisorderDisorderAssociationList·count="0"> |
| 251182 | ······</DisorderDisorderAssociationList> | 251087 | ······</DisorderDisorderAssociationList> |
| 251183 | ······<SummaryInformationList·count="1"> | 251088 | ······<SummaryInformationList·count="0"> |
| 251184 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 251185 | ··········<TextSectionList·count="0"> | |
| 251186 | ··········</TextSectionList> | |
| 251187 | ··········<TextAuto> | |
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| 251189 | ··········</TextAuto> | |
| 251190 | ········</SummaryInformation> | |
| 251191 | ······</SummaryInformationList> | 251089 | ······</SummaryInformationList> |
| 251192 | ····</Disorder> | 251090 | ····</Disorder> |
| 251193 | ····<Disorder·id="20109"> | 251091 | ····<Disorder·id="20109"> |
| ⋮ | ⋮ |
| 252753 | ····<Disorder·id="20326"> | 252651 | ····<Disorder·id="20326"> |
| 252754 | ······<OrphaCode>275761</OrphaCode> | 252652 | ······<OrphaCode>275761</OrphaCode> |
| 252755 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=275761</ExpertLink> | 252653 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=275761</ExpertLink> |
| 252756 | ······<Name·lang="nl">Lysosomale·zure·lipasedeficiëntie</Name> | 252654 | ······<Name·lang="nl">Deficiëntie·van·lysosomale·zure·lipase</Name> |
| 252757 | ······<DisorderFlagList·count="1"> | 252655 | ······<DisorderFlagList·count="1"> |
| 252758 | ········<DisorderFlag·id="475"> | 252656 | ········<DisorderFlag·id="475"> |
| 252759 | ··········<Value>1</Value> | 252657 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 254219 | ······</ExternalReferenceList> | 254117 | ······</ExternalReferenceList> |
| 254220 | ······<DisorderDisorderAssociationList·count="0"> | 254118 | ······<DisorderDisorderAssociationList·count="0"> |
| 254221 | ······</DisorderDisorderAssociationList> | 254119 | ······</DisorderDisorderAssociationList> |
| 254222 | ······<SummaryInformationList·count="1"> | 254120 | ······<SummaryInformationList·count="0"> |
| 254223 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 254224 | ··········<TextSectionList·count="0"> | |
| 254225 | ··········</TextSectionList> | |
| 254226 | ··········<TextAuto> | |
| 254227 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 254228 | ··········</TextAuto> | |
| 254229 | ········</SummaryInformation> | |
| 254230 | ······</SummaryInformationList> | 254121 | ······</SummaryInformationList> |
| 254231 | ····</Disorder> | 254122 | ····</Disorder> |
| 254232 | ····<Disorder·id="20346"> | 254123 | ····<Disorder·id="20346"> |
| ⋮ | ⋮ |
| 256822 | ····<Disorder·id="20316"> | 256713 | ····<Disorder·id="20316"> |
| 256823 | ······<OrphaCode>275523</OrphaCode> | 256714 | ······<OrphaCode>275523</OrphaCode> |
| 256824 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=275523</ExpertLink> | 256715 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=275523</ExpertLink> |
| 256825 | ······<Name·lang="nl">Dianzani·auto-immune·lymfoproliferatieve·ziekte</Name> | 256716 | ······<Name·lang="nl">Auto-immune·lymfoproliferatieve·ziekte·van·Dianzani</Name> |
| 256826 | ······<DisorderFlagList·count="1"> | 256717 | ······<DisorderFlagList·count="1"> |
| 256827 | ········<DisorderFlag·id="475"> | 256718 | ········<DisorderFlag·id="475"> |
| 256828 | ··········<Value>1</Value> | 256719 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 256968 | ······</ExternalReferenceList> | 256859 | ······</ExternalReferenceList> |
| 256969 | ······<DisorderDisorderAssociationList·count="0"> | 256860 | ······<DisorderDisorderAssociationList·count="0"> |
| 256970 | ······</DisorderDisorderAssociationList> | 256861 | ······</DisorderDisorderAssociationList> |
| 256971 | ······<SummaryInformationList·count="0"> | 256862 | ······<SummaryInformationList·count="1"> |
| | 256863 | ········<SummaryInformation·id="129114"·lang="nl"> |
| | 256864 | ··········<TextSectionList·count="1"> |
| | 256865 | ············<TextSection·id="167967"·lang="nl"> |
| | 256866 | ··············<TextSectionType·id="16907"> |
| | 256867 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 256868 | ··············</TextSectionType> |
| | 256869 | ··············<Contents>Een·zeldzaam·syndroom·van·ectodermale·dysplasie,·gekarakteriseerd·door·de·associatie·van·schaars,·fijn,·droog,·traag·groeiend·haar·met·variabele·dentale·afwijkingen,·waaronder·oligodontie,·kegelvormige·snijtanden,·en·holle·gebitselementen.·Milde·intellectuele·achterstand,·microcefalie,·en·dysmorfe·gelaatskenmerken·werden·ook·reeds·gerapporteerd.</Contents> |
| | 256870 | ············</TextSection> |
| | 256871 | ··········</TextSectionList> |
| | 256872 | ········</SummaryInformation> |
| 256972 | ······</SummaryInformationList> | 256873 | ······</SummaryInformationList> |
| 256973 | ····</Disorder> | 256874 | ····</Disorder> |
| 256974 | ····<Disorder·id="20315"> | 256875 | ····<Disorder·id="20315"> |
| ⋮ | ⋮ |
| 257193 | ········<DisorderDisorderAssociation> | 257094 | ········<DisorderDisorderAssociation> |
| 257194 | ··········<TargetDisorder·id="1461"> | 257095 | ··········<TargetDisorder·id="1461"> |
| 257195 | ············<OrphaCode>1215</OrphaCode> | 257096 | ············<OrphaCode>1215</OrphaCode> |
| 257196 | ············<Name·lang="nl">Autosomaal·dominante·opticusatrofie-plus·syndroom</Name> | 257097 | ············<Name·lang="nl">Autosomaal·dominante·opticusatrofie·plus-syndroom</Name> |
| 257197 | ··········</TargetDisorder> | 257098 | ··········</TargetDisorder> |
| 257198 | ··········<RootDisorder·id="2968"·cycle="true"/> | 257099 | ··········<RootDisorder·id="2968"·cycle="true"/> |
| 257199 | ··········<DisorderDisorderAssociationType·id="21471"> | 257100 | ··········<DisorderDisorderAssociationType·id="21471"> |
| ⋮ | ⋮ |
| 258507 | ··········<Label></Label> | 258408 | ··········<Label></Label> |
| 258508 | ········</DisorderFlag> | 258409 | ········</DisorderFlag> |
| 258509 | ······</DisorderFlagList> | 258410 | ······</DisorderFlagList> |
| 258510 | ······<SynonymList·count="2"> | 258411 | ······<SynonymList·count="1"> |
| 258511 | ········<Synonym·lang="nl">CAMT</Synonym> | 258412 | ········<Synonym·lang="nl">CAMT</Synonym> |
| 258512 | ········<Synonym·lang="nl">Congenitale·amegakaryocytaire·trombocytopenische·purpura</Synonym> | |
| 258513 | ······</SynonymList> | 258413 | ······</SynonymList> |
| 258514 | ······<DisorderType·id="21394"> | 258414 | ······<DisorderType·id="21394"> |
| 258515 | ········<Name·lang="nl">Ziekte</Name> | 258415 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 259560 | ········<DisorderDisorderAssociation> | 259460 | ········<DisorderDisorderAssociation> |
| 259561 | ··········<TargetDisorder·id="2473"> | 259461 | ··········<TargetDisorder·id="2473"> |
| 259562 | ············<OrphaCode>2712</OrphaCode> | 259462 | ············<OrphaCode>2712</OrphaCode> |
| 259563 | ············<Name·lang="nl">Oculo-facio-cardio-dentaal·syndroom</Name> | 259463 | ············<Name·lang="nl">Oculofaciocardiodentaal·syndroom</Name> |
| 259564 | ··········</TargetDisorder> | 259464 | ··········</TargetDisorder> |
| 259565 | ··········<RootDisorder·id="3068"·cycle="true"/> | 259465 | ··········<RootDisorder·id="3068"·cycle="true"/> |
| 259566 | ··········<DisorderDisorderAssociationType·id="21471"> | 259466 | ··········<DisorderDisorderAssociationType·id="21471"> |
| ⋮ | ⋮ |
| 265253 | ········<DisorderDisorderAssociation> | 265153 | ········<DisorderDisorderAssociation> |
| 265254 | ··········<TargetDisorder·id="1461"> | 265154 | ··········<TargetDisorder·id="1461"> |
| 265255 | ············<OrphaCode>1215</OrphaCode> | 265155 | ············<OrphaCode>1215</OrphaCode> |
| 265256 | ············<Name·lang="nl">Autosomaal·dominante·opticusatrofie-plus·syndroom</Name> | 265156 | ············<Name·lang="nl">Autosomaal·dominante·opticusatrofie·plus-syndroom</Name> |
| 265257 | ··········</TargetDisorder> | 265157 | ··········</TargetDisorder> |
| 265258 | ··········<RootDisorder·id="2867"·cycle="true"/> | 265158 | ··········<RootDisorder·id="2867"·cycle="true"/> |
| 265259 | ··········<DisorderDisorderAssociationType·id="21471"> | 265159 | ··········<DisorderDisorderAssociationType·id="21471"> |
| ⋮ | ⋮ |
| 265322 | ····<Disorder·id="20476"> | 265222 | ····<Disorder·id="20476"> |
| 265323 | ······<OrphaCode>280576</OrphaCode> | 265223 | ······<OrphaCode>280576</OrphaCode> |
| 265324 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=280576</ExpertLink> | 265224 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=280576</ExpertLink> |
| 265325 | ······<Name·lang="nl">Nestor-Guillermo·progeriasyndroom</Name> | 265225 | ······<Name·lang="nl">Progeriasyndroom·van·Nestor-Guillermo</Name> |
| 265326 | ······<DisorderFlagList·count="1"> | 265226 | ······<DisorderFlagList·count="1"> |
| 265327 | ········<DisorderFlag·id="475"> | 265227 | ········<DisorderFlag·id="475"> |
| 265328 | ··········<Value>1</Value> | 265228 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 265951 | ····<Disorder·id="20473"> | 265851 | ····<Disorder·id="20473"> |
| 265952 | ······<OrphaCode>280558</OrphaCode> | 265852 | ······<OrphaCode>280558</OrphaCode> |
| 265953 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=280558</ExpertLink> | 265853 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=280558</ExpertLink> |
| 265954 | ······<Name·lang="nl">Warsaw·breakage-syndroom</Name> | 265854 | ······<Name·lang="nl">Warschau-breuksyndroom</Name> |
| 265955 | ······<DisorderFlagList·count="1"> | 265855 | ······<DisorderFlagList·count="1"> |
| 265956 | ········<DisorderFlag·id="475"> | 265856 | ········<DisorderFlag·id="475"> |
| 265957 | ··········<Value>1</Value> | 265857 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 266069 | ····<Disorder·id="2875"> | 265969 | ····<Disorder·id="2875"> |
| 266070 | ······<OrphaCode>3218</OrphaCode> | 265970 | ······<OrphaCode>3218</OrphaCode> |
| 266071 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=3218</ExpertLink> | 265971 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=3218</ExpertLink> |
| 266072 | ······<Name·lang="nl">Doofheid·-·epifysaire·dysplasie·-·kleine·gestalte</Name> | 265972 | ······<Name·lang="nl">Doofheid·-·epifysaire·dysplasie·-·kleine·gestalte-syndroom</Name> |
| 266073 | ······<DisorderFlagList·count="1"> | 265973 | ······<DisorderFlagList·count="1"> |
| 266074 | ········<DisorderFlag·id="475"> | 265974 | ········<DisorderFlag·id="475"> |
| 266075 | ··········<Value>1</Value> | 265975 | ··········<Value>1</Value> |
| 266076 | ··········<Label></Label> | 265976 | ··········<Label></Label> |
| 266077 | ········</DisorderFlag> | 265977 | ········</DisorderFlag> |
| 266078 | ······</DisorderFlagList> | 265978 | ······</DisorderFlagList> |
| 266079 | ······<SynonymList·count="1"> | 265979 | ······<SynonymList·count="2"> |
| 266080 | ········<Synonym·lang="nl">Chitty-Hall-Baraitsersyndroom</Synonym> | 265980 | ········<Synonym·lang="nl">Gehoorverlies·-·epifysaire·dysplasie·-·kleine·gestalte-syndroom</Synonym> |
| | 265981 | ········<Synonym·lang="nl">Syndroom·van·Chitty-Hall-Baraitser</Synonym> |
| 266081 | ······</SynonymList> | 265982 | ······</SynonymList> |
| 266082 | ······<DisorderType·id="21401"> | 265983 | ······<DisorderType·id="21401"> |
| 266083 | ········<Name·lang="nl">Malformatiesyndroom</Name> | 265984 | ········<Name·lang="nl">Malformatiesyndroom</Name> |
| ⋮ | ⋮ |
| 266122 | ······</ExternalReferenceList> | 266023 | ······</ExternalReferenceList> |
| 266123 | ······<DisorderDisorderAssociationList·count="0"> | 266024 | ······<DisorderDisorderAssociationList·count="0"> |
| 266124 | ······</DisorderDisorderAssociationList> | 266025 | ······</DisorderDisorderAssociationList> |
| 266125 | ······<SummaryInformationList·count="0"> | 266026 | ······<SummaryInformationList·count="1"> |
| | 266027 | ········<SummaryInformation·id="129010"·lang="nl"> |
| | 266028 | ··········<TextSectionList·count="1"> |
| | 266029 | ············<TextSection·id="167934"·lang="nl"> |
| | 266030 | ··············<TextSectionType·id="16907"> |
| | 266031 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 266032 | ··············</TextSectionType> |
| | 266033 | ··············<Contents>Een·zeldzame·syndromale·genetische·doofheid,·gekarakteriseerd·door·zeer·ernstige·congenitale·bilaterale·sensorineurale·doofheid,·ontwikkelingsachterstand,·matige·intellectuele·achterstand,·gegeneraliseerde·vertraging·van·botmaturatie,·kleine·gestalte,·epifysaire·dysplasie·van·vooral·proximale·epifysen·van·femur,·en·milde·dysmorfe·gelaatskenmerken·zoals·prominent·voorhoofd·en·kleine,·puntige·kin.·Bilaterale·obstructie·van·afvoergangen·van·traanklieren,·en·lies-·en·navelbreuken·werden·ook·reeds·beschreven.</Contents> |
| | 266034 | ············</TextSection> |
| | 266035 | ··········</TextSectionList> |
| | 266036 | ········</SummaryInformation> |
| 266126 | ······</SummaryInformationList> | 266037 | ······</SummaryInformationList> |
| 266127 | ····</Disorder> | 266038 | ····</Disorder> |
| 266128 | ····<Disorder·id="20475"> | 266039 | ····<Disorder·id="20475"> |
| ⋮ | ⋮ |
| 268264 | ··········<TargetDisorder·id="20436"·cycle="true"/> | 268175 | ··········<TargetDisorder·id="20436"·cycle="true"/> |
| 268265 | ··········<RootDisorder·id="2153"> | 268176 | ··········<RootDisorder·id="2153"> |
| 268266 | ············<OrphaCode>2286</OrphaCode> | 268177 | ············<OrphaCode>2286</OrphaCode> |
| 268267 | ············<Name·lang="nl">OBSOLEET:·Solitaire·mediaan-maxillaire·centrale·snijtand-syndroom</Name> | 268178 | ············<Name·lang="nl">OBSOLEET:·Solitaire·mediane·maxillaire·centrale·incisief-syndroom</Name> |
| 268268 | ··········</RootDisorder> | 268179 | ··········</RootDisorder> |
| 268269 | ··········<DisorderDisorderAssociationType·id="27341"> | 268180 | ··········<DisorderDisorderAssociationType·id="27341"> |
| 268270 | ············<Name·lang="nl">Referred·to</Name> | 268181 | ············<Name·lang="nl">Referred·to</Name> |
| ⋮ | ⋮ |
| 268486 | ······</ExternalReferenceList> | 268397 | ······</ExternalReferenceList> |
| 268487 | ······<DisorderDisorderAssociationList·count="0"> | 268398 | ······<DisorderDisorderAssociationList·count="0"> |
| 268488 | ······</DisorderDisorderAssociationList> | 268399 | ······</DisorderDisorderAssociationList> |
| 268489 | ······<SummaryInformationList·count="0"> | 268400 | ······<SummaryInformationList·count="1"> |
| | 268401 | ········<SummaryInformation·id="128995"·lang="nl"> |
| | 268402 | ··········<TextSectionList·count="1"> |
| | 268403 | ············<TextSection·id="167919"·lang="nl"> |
| | 268404 | ··············<TextSectionType·id="16907"> |
| | 268405 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 268406 | ··············</TextSectionType> |
| | 268407 | ··············<Contents>Een·zeldzame·ARX-gerelateerde·epileptische·encefalopathie,·gekarakteriseerd·door·infantiele·aanvang·van·myoclonusepilepsie·met·gegeneraliseerde·spasticiteit,·ernstige·algehele·ontwikkelingsachterstand,·en·matige·tot·zeer·ernstige·intellectuele·achterstand.·Obligate·vrouwelijke·dragers·vertonen·subtiele,·gegeneraliseerde·hyperreflexie.·Laat·optredende·progressieve·spastische·ataxie·werd·ook·reeds·gerapporteerd.</Contents> |
| | 268408 | ············</TextSection> |
| | 268409 | ··········</TextSectionList> |
| | 268410 | ········</SummaryInformation> |
| 268490 | ······</SummaryInformationList> | 268411 | ······</SummaryInformationList> |
| 268491 | ····</Disorder> | 268412 | ····</Disorder> |
| 268492 | ····<Disorder·id="20435"> | 268413 | ····<Disorder·id="20435"> |
| ⋮ | ⋮ |
| 268565 | ··············<TextSectionType·id="16907"> | 268486 | ··············<TextSectionType·id="16907"> |
| 268566 | ················<Name·lang="nl">Definitie·ziekte</Name> | 268487 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 268567 | ··············</TextSectionType> | 268488 | ··············</TextSectionType> |
| 268568 | ··············<Contents>Een·zeldzaam·subtype·van·holoprosencefalie,·gekarakteriseerd·door·fusie·van·middellijn·die·zich·beperkt·tot·septale·en/of·preoptische·gebieden·van·telencephalon·zonder·significante·fusie·van·frontale·neocortex.·Craniofaciale·malformaties·van·middellijn·zijn·doorgaans·mild·en·omvatten·solitaire·mediane·maxillaire·snijtand·en·stenose·van·sinus·piriformis.·Overige·gerapporteerde·manifestaties·zijn·onder·meer·taalachterstand,·leermoeilijkheden,·en·gedragsstoornissen.·Beeldvorming·toont·abnormale·fornix,·afwezig·of·hypoplastisch·anterieur·corpus·callosum,·en·ongepaarde·arteria·cerebri·anterior..</Contents> | 268489 | ··············<Contents>Een·zeldzaam·subtype·van·holoprosencefalie,·gekarakteriseerd·door·fusie·op·de·middellijn·die·zich·beperkt·tot·septale·en/of·preoptische·gebieden·van·het·telencephalon·zonder·significante·fusie·van·de·frontale·neocortex.·Craniofaciale·malformaties·op·de·middellijn·zijn·doorgaans·mild·en·omvatten·solitaire·mediane·maxillaire·snijtand·en·stenose·van·sinus·piriformis.·Overige·gerapporteerde·manifestaties·zijn·onder·meer·taalachterstand,·leermoeilijkheden,·en·gedragsstoornissen.·Beeldvorming·toont·abnormale·fornix,·afwezig·of·hypoplastisch·anterieur·corpus·callosum,·en·ongepaarde·arteria·cerebri·anterior.</Contents> |
| 268569 | ············</TextSection> | 268490 | ············</TextSection> |
| 268570 | ··········</TextSectionList> | 268491 | ··········</TextSectionList> |
| 268571 | ········</SummaryInformation> | 268492 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 270242 | ······</ExternalReferenceList> | 270163 | ······</ExternalReferenceList> |
| 270243 | ······<DisorderDisorderAssociationList·count="0"> | 270164 | ······<DisorderDisorderAssociationList·count="0"> |
| 270244 | ······</DisorderDisorderAssociationList> | 270165 | ······</DisorderDisorderAssociationList> |
| 270245 | ······<SummaryInformationList·count="0"> | 270166 | ······<SummaryInformationList·count="1"> |
| | 270167 | ········<SummaryInformation·id="129125"·lang="nl"> |
| | 270168 | ··········<TextSectionList·count="1"> |
| | 270169 | ············<TextSection·id="167978"·lang="nl"> |
| | 270170 | ··············<TextSectionType·id="16907"> |
| | 270171 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 270172 | ··············</TextSectionType> |
| | 270173 | ··············<Contents>Een·zeldzame·X-gebonden·syndromale·intellectuele·achterstand,·bij·symptomatische·vrouwelijke·dragers·gekarakteriseerd·door·een·zeer·variabel·fenotype·met·onder·meer·faciale·dysmorfie·(prominent·voorhoofd,·hypertelorisme,·schuin·naar·beneden·hellende·ooglidspleten,·epicanthusplooien,·dikke·lippen·met·eversie·van·onderste·vermiljoen,·dikke·neusvleugels,·en·septum),·korte·handen·met·spits·toelopende·vingers,·kleine·gestalte·en·bevindingen·betreffende·het·skelet·(progressieve·kyfoscoliose).·Intellectuele·achterstand·is·mild·tot·matig,·maar·de·intelligentie·kan·ook·normaal·zijn.·Er·werd·ook·een·hoog·percentage·psychiatrische·aandoeningen·gerapporteerd.</Contents> |
| | 270174 | ············</TextSection> |
| | 270175 | ··········</TextSectionList> |
| | 270176 | ········</SummaryInformation> |
| 270246 | ······</SummaryInformationList> | 270177 | ······</SummaryInformationList> |
| 270247 | ····</Disorder> | 270178 | ····</Disorder> |
| 270248 | ····<Disorder·id="2920"> | 270179 | ····<Disorder·id="2920"> |
| ⋮ | ⋮ |
| 273916 | ······</ExternalReferenceList> | 273847 | ······</ExternalReferenceList> |
| 273917 | ······<DisorderDisorderAssociationList·count="0"> | 273848 | ······<DisorderDisorderAssociationList·count="0"> |
| 273918 | ······</DisorderDisorderAssociationList> | 273849 | ······</DisorderDisorderAssociationList> |
| 273919 | ······<SummaryInformationList·count="0"> | 273850 | ······<SummaryInformationList·count="1"> |
| | 273851 | ········<SummaryInformation·id="128979"·lang="nl"> |
| | 273852 | ··········<TextSectionList·count="1"> |
| | 273853 | ············<TextSection·id="167903"·lang="nl"> |
| | 273854 | ··············<TextSectionType·id="16907"> |
| | 273855 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 273856 | ··············</TextSectionType> |
| | 273857 | ··············<Contents>Een·zeldzaam,·genetisch·syndroom·met·multipele·congenitale·anomalieën/dysmorfie,·gekarakteriseerd·door·groeiretardatie,·kleine·gestalte,·voedingsproblemen·en·niet-gedijen,·hartanomalieën·(septumdefecten·en/of·dysplasie·van·hartklep),·gewrichtslaxiteit,·korte·ledematen,·brachydactylie,·fusie·van·carpalen·en·tarsalen,·fusie·van·cervicale·wervels,·malformatie·van·binnenoor·met·bilateraal·conductief·gehoorverlies,·en·dysmorfe·gelaatskenmerken·(zoals·hypertelorisme,·opwaarts·hellende·ooglidspleten,·naar·achteren·gedraaide·oren,·anteversie·van·de·neusgaten,·en·lang·filtrum).·Bijkomende·variabele·manifestaties·zijn·onder·meer·gastro-oesofageale·reflux·en·urogenitale·anomalieën.</Contents> |
| | 273858 | ············</TextSection> |
| | 273859 | ··········</TextSectionList> |
| | 273860 | ········</SummaryInformation> |
| 273920 | ······</SummaryInformationList> | 273861 | ······</SummaryInformationList> |
| 273921 | ····</Disorder> | 273862 | ····</Disorder> |
| 273922 | ····<Disorder·id="20369"> | 273863 | ····<Disorder·id="20369"> |
| ⋮ | ⋮ |
| 283457 | ··········<TargetDisorder·id="3245"·cycle="true"/> | 283398 | ··········<TargetDisorder·id="3245"·cycle="true"/> |
| 283458 | ··········<RootDisorder·id="14390"> | 283399 | ··········<RootDisorder·id="14390"> |
| 283459 | ············<OrphaCode>99817</OrphaCode> | 283400 | ············<OrphaCode>99817</OrphaCode> |
| 283460 | ············<Name·lang="nl">Niet-polyposis·Turcotsyndroom</Name> | 283401 | ············<Name·lang="nl">Syndroom·van·Turcot·zonder·polyposis</Name> |
| 283461 | ··········</RootDisorder> | 283402 | ··········</RootDisorder> |
| 283462 | ··········<DisorderDisorderAssociationType·id="21471"> | 283403 | ··········<DisorderDisorderAssociationType·id="21471"> |
| 283463 | ············<Name·lang="nl">Verplaatst·naar</Name> | 283404 | ············<Name·lang="nl">Verplaatst·naar</Name> |
| ⋮ | ⋮ |
| 283567 | ······</ExternalReferenceList> | 283508 | ······</ExternalReferenceList> |
| 283568 | ······<DisorderDisorderAssociationList·count="0"> | 283509 | ······<DisorderDisorderAssociationList·count="0"> |
| 283569 | ······</DisorderDisorderAssociationList> | 283510 | ······</DisorderDisorderAssociationList> |
| 283570 | ······<SummaryInformationList·count="1"> | 283511 | ······<SummaryInformationList·count="0"> |
| 283571 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 283572 | ··········<TextSectionList·count="0"> | |
| 283573 | ··········</TextSectionList> | |
| 283574 | ··········<TextAuto> | |
| 283575 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 283576 | ··········</TextAuto> | |
| 283577 | ········</SummaryInformation> | |
| 283578 | ······</SummaryInformationList> | 283512 | ······</SummaryInformationList> |
| 283579 | ····</Disorder> | 283513 | ····</Disorder> |
| 283580 | ····<Disorder·id="18541"> | 283514 | ····<Disorder·id="18541"> |
| ⋮ | ⋮ |
| 291010 | ········</DisorderFlag> | 290944 | ········</DisorderFlag> |
| 291011 | ······</DisorderFlagList> | 290945 | ······</DisorderFlagList> |
| 291012 | ······<SynonymList·count="4"> | 290946 | ······<SynonymList·count="4"> |
| 291013 | ········<Synonym·lang="nl">Auto-inflammatoire·ziekte·als·gevolg·van·interleukine-1·receptorantagonistdeficiëntie</Synonym> | 290947 | ········<Synonym·lang="nl">Auto-inflammatoire·ziekte·door·deficiëntie·van·interleukine-1-receptorantagonist</Synonym> |
| 291014 | ········<Synonym·lang="nl">DIRA</Synonym> | 290948 | ········<Synonym·lang="nl">DIRA</Synonym> |
| 291015 | ········<Synonym·lang="nl">Interleukine-1·receptorantagonistdeficiëntie</Synonym> | 290949 | ········<Synonym·lang="nl">Deficiëntie·van·interleukine-1-receptorantagonist</Synonym> |
| 291016 | ········<Synonym·lang="nl">OMPP</Synonym> | 290950 | ········<Synonym·lang="nl">OMPP</Synonym> |
| 291017 | ······</SynonymList> | 290951 | ······</SynonymList> |
| 291018 | ······<DisorderType·id="21394"> | 290952 | ······<DisorderType·id="21394"> |
| ⋮ | ⋮ |
| 291549 | ····<Disorder·id="18687"> | 291483 | ····<Disorder·id="18687"> |
| 291550 | ······<OrphaCode>210136</OrphaCode> | 291484 | ······<OrphaCode>210136</OrphaCode> |
| 291551 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=210136</ExpertLink> | 291485 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=210136</ExpertLink> |
| 291552 | ······<Name·lang="nl">Longfibrose·-·hepatische·hyperplasie·-·beenmerghypoplasie-syndroom</Name> | 291486 | ······<Name·lang="nl">Longfibrose·-·leverhyperplasie·-·beenmerghypoplasie-syndroom</Name> |
| 291553 | ······<DisorderFlagList·count="1"> | 291487 | ······<DisorderFlagList·count="1"> |
| 291554 | ········<DisorderFlag·id="475"> | 291488 | ········<DisorderFlag·id="475"> |
| 291555 | ··········<Value>1</Value> | 291489 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 292024 | ····<Disorder·id="18675"> | 291958 | ····<Disorder·id="18675"> |
| 292025 | ······<OrphaCode>209964</OrphaCode> | 291959 | ······<OrphaCode>209964</OrphaCode> |
| 292026 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=209964</ExpertLink> | 291960 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=209964</ExpertLink> |
| 292027 | ······<Name·lang="nl">Solitaire·rectale·ulcussyndroom</Name> | 291961 | ······<Name·lang="nl">Solitaire·rectale·ulcus-syndroom</Name> |
| 292028 | ······<DisorderFlagList·count="1"> | 291962 | ······<DisorderFlagList·count="1"> |
| 292029 | ········<DisorderFlag·id="475"> | 291963 | ········<DisorderFlag·id="475"> |
| 292030 | ··········<Value>1</Value> | 291964 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 292179 | ····<Disorder·id="18678"> | 292113 | ····<Disorder·id="18678"> |
| 292180 | ······<OrphaCode>209973</OrphaCode> | 292114 | ······<OrphaCode>209973</OrphaCode> |
| 292181 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=209973</ExpertLink> | 292115 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=209973</ExpertLink> |
| 292182 | ······<Name·lang="nl">Goedaardige·nachtelijke·alternerende·hemiplegie·van·de·kindertijd</Name> | 292116 | ······<Name·lang="nl">Benigne·nachtelijke·alternerende·hemiplegie·op·kinderleeftijd</Name> |
| 292183 | ······<DisorderFlagList·count="1"> | 292117 | ······<DisorderFlagList·count="1"> |
| 292184 | ········<DisorderFlag·id="475"> | 292118 | ········<DisorderFlag·id="475"> |
| 292185 | ··········<Value>1</Value> | 292119 | ··········<Value>1</Value> |
| 292186 | ··········<Label></Label> | 292120 | ··········<Label></Label> |
| 292187 | ········</DisorderFlag> | 292121 | ········</DisorderFlag> |
| 292188 | ······</DisorderFlagList> | 292122 | ······</DisorderFlagList> |
| 292189 | ······<SynonymList·count="0"> | 292123 | ······<SynonymList·count="1"> |
| | 292124 | ········<Synonym·lang="nl">Goedaardige·familiale·nachtelijke·alternerende·hemiplegie·in·de·kindertijd</Synonym> |
| 292190 | ······</SynonymList> | 292125 | ······</SynonymList> |
| 292191 | ······<DisorderType·id="21394"> | 292126 | ······<DisorderType·id="21394"> |
| 292192 | ········<Name·lang="nl">Ziekte</Name> | 292127 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 292454 | ······</ExternalReferenceList> | 292389 | ······</ExternalReferenceList> |
| 292455 | ······<DisorderDisorderAssociationList·count="0"> | 292390 | ······<DisorderDisorderAssociationList·count="0"> |
| 292456 | ······</DisorderDisorderAssociationList> | 292391 | ······</DisorderDisorderAssociationList> |
| 292457 | ······<SummaryInformationList·count="0"> | 292392 | ······<SummaryInformationList·count="1"> |
| | 292393 | ········<SummaryInformation·id="129140"·lang="nl"> |
| | 292394 | ··········<TextSectionList·count="1"> |
| | 292395 | ············<TextSection·id="167993"·lang="nl"> |
| | 292396 | ··············<TextSectionType·id="16907"> |
| | 292397 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 292398 | ··············</TextSectionType> |
| | 292399 | ··············<Contents>Een·zeldzame·urogenitale·aandoening,·gekarakteriseerd·door·onverklaarbare·chronische·urineretentie·van·meer·dan·1·liter·steriele·urine·bij·katheterisatie,·een·ongevoelige·blaas·met·verlies·van·mictiedrang,·en·geen·ondersteuning·door·inspanning.·Doorgaans·wordt·weinig·tolerantie·voor·zelf-katheterisatie·gerapporteerd.·De·aandoening·komt·voor·bij·vrouwen·tussen·menarche·en·menopauze.</Contents> |
| | 292400 | ············</TextSection> |
| | 292401 | ··········</TextSectionList> |
| | 292402 | ········</SummaryInformation> |
| 292458 | ······</SummaryInformationList> | 292403 | ······</SummaryInformationList> |
| 292459 | ····</Disorder> | 292404 | ····</Disorder> |
| 292460 | ····<Disorder·id="18667"> | 292405 | ····<Disorder·id="18667"> |
| ⋮ | ⋮ |
| 292699 | ····<Disorder·id="18665"> | 292644 | ····<Disorder·id="18665"> |
| 292700 | ······<OrphaCode>209902</OrphaCode> | 292645 | ······<OrphaCode>209902</OrphaCode> |
| 292701 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=209902</ExpertLink> | 292646 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=209902</ExpertLink> |
| 292702 | ······<Name·lang="nl">Hypercholesterolemie·door·cholesterol·7-alfa-hydroxylasedeficiëntie</Name> | 292647 | ······<Name·lang="nl">Hypercholesterolemie·door·deficiëntie·van·cholesterol-7-alfa-hydroxylase</Name> |
| 292703 | ······<DisorderFlagList·count="1"> | 292648 | ······<DisorderFlagList·count="1"> |
| 292704 | ········<DisorderFlag·id="475"> | 292649 | ········<DisorderFlag·id="475"> |
| 292705 | ··········<Value>1</Value> | 292650 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 298110 | ····<Disorder·id="3559"> | 298055 | ····<Disorder·id="3559"> |
| 298111 | ······<OrphaCode>2968</OrphaCode> | 298056 | ······<OrphaCode>2968</OrphaCode> |
| 298112 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=2968</ExpertLink> | 298057 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=2968</ExpertLink> |
| 298113 | ······<Name·lang="nl">Leukocytadhesiedeficiëntie</Name> | 298058 | ······<Name·lang="nl">Deficiëntie·van·leukocytenadhesie</Name> |
| 298114 | ······<DisorderFlagList·count="1"> | 298059 | ······<DisorderFlagList·count="1"> |
| 298115 | ········<DisorderFlag·id="475"> | 298060 | ········<DisorderFlag·id="475"> |
| 298116 | ··········<Value>1</Value> | 298061 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 299363 | ······</ExternalReferenceList> | 299308 | ······</ExternalReferenceList> |
| 299364 | ······<DisorderDisorderAssociationList·count="0"> | 299309 | ······<DisorderDisorderAssociationList·count="0"> |
| 299365 | ······</DisorderDisorderAssociationList> | 299310 | ······</DisorderDisorderAssociationList> |
| 299366 | ······<SummaryInformationList·count="1"> | 299311 | ······<SummaryInformationList·count="0"> |
| 299367 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 299368 | ··········<TextSectionList·count="0"> | |
| 299369 | ··········</TextSectionList> | |
| 299370 | ··········<TextAuto> | |
| 299371 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 299372 | ··········</TextAuto> | |
| 299373 | ········</SummaryInformation> | |
| 299374 | ······</SummaryInformationList> | 299312 | ······</SummaryInformationList> |
| 299375 | ····</Disorder> | 299313 | ····</Disorder> |
| 299376 | ····<Disorder·id="3572"> | 299314 | ····<Disorder·id="3572"> |
| ⋮ | ⋮ |
| 300409 | ····<Disorder·id="18745"> | 300347 | ····<Disorder·id="18745"> |
| 300410 | ······<OrphaCode>213524</OrphaCode> | 300348 | ······<OrphaCode>213524</OrphaCode> |
| 300411 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=213524</ExpertLink> | 300349 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=213524</ExpertLink> |
| 300412 | ······<Name·lang="nl">Erfelijk·plaatsspecifiek·eierstokkankersyndroom</Name> | 300350 | ······<Name·lang="nl">Hereditaire·plaatsspecifieke·eierstokkanker-syndroom</Name> |
| 300413 | ······<DisorderFlagList·count="1"> | 300351 | ······<DisorderFlagList·count="1"> |
| 300414 | ········<DisorderFlag·id="475"> | 300352 | ········<DisorderFlag·id="475"> |
| 300415 | ··········<Value>1</Value> | 300353 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 300492 | ······</ExternalReferenceList> | 300430 | ······</ExternalReferenceList> |
| 300493 | ······<DisorderDisorderAssociationList·count="0"> | 300431 | ······<DisorderDisorderAssociationList·count="0"> |
| 300494 | ······</DisorderDisorderAssociationList> | 300432 | ······</DisorderDisorderAssociationList> |
| 300495 | ······<SummaryInformationList·count="1"> | 300433 | ······<SummaryInformationList·count="0"> |
| 300496 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 300497 | ··········<TextSectionList·count="0"> | |
| 300498 | ··········</TextSectionList> | |
| 300499 | ··········<TextAuto> | |
| 300500 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 300501 | ··········</TextAuto> | |
| 300502 | ········</SummaryInformation> | |
| 300503 | ······</SummaryInformationList> | 300434 | ······</SummaryInformationList> |
| 300504 | ····</Disorder> | 300435 | ····</Disorder> |
| 300505 | ····<Disorder·id="3577"> | 300436 | ····<Disorder·id="3577"> |
| ⋮ | ⋮ |
| 303878 | ··········<Label></Label> | 303809 | ··········<Label></Label> |
| 303879 | ········</DisorderFlag> | 303810 | ········</DisorderFlag> |
| 303880 | ······</DisorderFlagList> | 303811 | ······</DisorderFlagList> |
| 303881 | ······<SynonymList·count="5"> | 303812 | ······<SynonymList·count="2"> |
| 303882 | ········<Synonym·lang="nl">Auto-immune·PAP</Synonym> | 303813 | ········<Synonym·lang="nl">Auto-immune·PAP</Synonym> |
| 303883 | ········<Synonym·lang="nl">Idiopathische·PAP</Synonym> | |
| 303884 | ········<Synonym·lang="nl">Idiopathische·pulmonale·alveolaire·proteïnose</Synonym> | |
| 303885 | ········<Synonym·lang="nl">aPAP</Synonym> | 303814 | ········<Synonym·lang="nl">aPAP</Synonym> |
| 303886 | ········<Synonym·lang="nl">iPAP</Synonym> | |
| 303887 | ······</SynonymList> | 303815 | ······</SynonymList> |
| 303888 | ······<DisorderType·id="21394"> | 303816 | ······<DisorderType·id="21394"> |
| 303889 | ········<Name·lang="nl">Ziekte</Name> | 303817 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 304383 | ····<Disorder·id="18782"> | 304311 | ····<Disorder·id="18782"> |
| 304384 | ······<OrphaCode>213828</OrphaCode> | 304312 | ······<OrphaCode>213828</OrphaCode> |
| 304385 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=213828</ExpertLink> | 304313 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=213828</ExpertLink> |
| 304386 | ······<Name·lang="nl">Adenoïd·basaal·carcinoom·van·de·baarmoederhals</Name> | 304314 | ······<Name·lang="nl">Adenoïd·basaalcelcarcinoom·van·baarmoederhals</Name> |
| 304387 | ······<DisorderFlagList·count="1"> | 304315 | ······<DisorderFlagList·count="1"> |
| 304388 | ········<DisorderFlag·id="475"> | 304316 | ········<DisorderFlag·id="475"> |
| 304389 | ··········<Value>1</Value> | 304317 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 304391 | ········</DisorderFlag> | 304319 | ········</DisorderFlag> |
| 304392 | ······</DisorderFlagList> | 304320 | ······</DisorderFlagList> |
| 304393 | ······<SynonymList·count="2"> | 304321 | ······<SynonymList·count="2"> |
| 304394 | ········<Synonym·lang="nl">Adenoïd·basaal·carcinoom·van·de·cervix·uteri</Synonym> | 304322 | ········<Synonym·lang="nl">Adenoïd·basaalcelcarcinoom·van·cervix·uteri</Synonym> |
| 304395 | ········<Synonym·lang="nl">Cervicaal·adenoïd·basaal·carcinoom</Synonym> | 304323 | ········<Synonym·lang="nl">Cervicaal·adenoïd·basaalcelcarcinoom</Synonym> |
| 304396 | ······</SynonymList> | 304324 | ······</SynonymList> |
| 304397 | ······<DisorderType·id="21394"> | 304325 | ······<DisorderType·id="21394"> |
| 304398 | ········<Name·lang="nl">Ziekte</Name> | 304326 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 305687 | ········</DisorderFlag> | 305615 | ········</DisorderFlag> |
| 305688 | ······</DisorderFlagList> | 305616 | ······</DisorderFlagList> |
| 305689 | ······<SynonymList·count="5"> | 305617 | ······<SynonymList·count="5"> |
| | 305618 | ········<Synonym·lang="nl">Deficiëntie·van·fumarylacetoacetaat-hydrolase</Synonym> |
| | 305619 | ········<Synonym·lang="nl">Deficiëntie·van·fumarylacetoacetase</Synonym> |
| 305690 | ········<Synonym·lang="nl">FAH-deficiëntie</Synonym> | 305620 | ········<Synonym·lang="nl">FAH-deficiëntie</Synonym> |
| 305691 | ········<Synonym·lang="nl">Fumarylacetoacetaat-hydrolasedeficiëntie</Synonym> | |
| 305692 | ········<Synonym·lang="nl">Fumarylacetoacetasedeficiëntie</Synonym> | |
| 305693 | ········<Synonym·lang="nl">Hepatorenale·tyrosinemie</Synonym> | 305621 | ········<Synonym·lang="nl">Hepatorenale·tyrosinemie</Synonym> |
| 305694 | ········<Synonym·lang="nl">Tyrosinemie·type·I</Synonym> | 305622 | ········<Synonym·lang="nl">Tyrosinemie·type·I</Synonym> |
| 305695 | ······</SynonymList> | 305623 | ······</SynonymList> |
| ⋮ | ⋮ |
| 308962 | ······</ExternalReferenceList> | 308890 | ······</ExternalReferenceList> |
| 308963 | ······<DisorderDisorderAssociationList·count="0"> | 308891 | ······<DisorderDisorderAssociationList·count="0"> |
| 308964 | ······</DisorderDisorderAssociationList> | 308892 | ······</DisorderDisorderAssociationList> |
| 308965 | ······<SummaryInformationList·count="1"> | 308893 | ······<SummaryInformationList·count="0"> |
| 308966 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 308967 | ··········<TextSectionList·count="0"> | |
| 308968 | ··········</TextSectionList> | |
| 308969 | ··········<TextAuto> | |
| 308970 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 308971 | ··········</TextAuto> | |
| 308972 | ········</SummaryInformation> | |
| 308973 | ······</SummaryInformationList> | 308894 | ······</SummaryInformationList> |
| 308974 | ····</Disorder> | 308895 | ····</Disorder> |
| 308975 | ····<Disorder·id="3399"> | 308896 | ····<Disorder·id="3399"> |
| ⋮ | ⋮ |
| 310801 | ··········<Label></Label> | 310722 | ··········<Label></Label> |
| 310802 | ········</DisorderFlag> | 310723 | ········</DisorderFlag> |
| 310803 | ······</DisorderFlagList> | 310724 | ······</DisorderFlagList> |
| 310804 | ······<SynonymList·count="1"> | 310725 | ······<SynonymList·count="0"> |
| 310805 | ········<Synonym·lang="nl">Ebolavirusziekte</Synonym> | |
| 310806 | ······</SynonymList> | 310726 | ······</SynonymList> |
| 310807 | ······<DisorderType·id="36561"> | 310727 | ······<DisorderType·id="36561"> |
| 310808 | ········<Name·lang="nl">Category</Name> | 310728 | ········<Name·lang="nl">Category</Name> |
| ⋮ | ⋮ |
| 311057 | ··········<Label></Label> | 310977 | ··········<Label></Label> |
| 311058 | ········</DisorderFlag> | 310978 | ········</DisorderFlag> |
| 311059 | ······</DisorderFlagList> | 310979 | ······</DisorderFlagList> |
| 311060 | ······<SynonymList·count="1"> | 310980 | ······<SynonymList·count="2"> |
| 311061 | ········<Synonym·lang="nl">CAPOS-syndroom</Synonym> | 310981 | ········<Synonym·lang="nl">CAPOS-syndroom</Synonym> |
| | 310982 | ········<Synonym·lang="nl">Cerebellaire·ataxie·-·areflexie·-·pes·cavus·-·opticusatrofie·-·sensorineurale·doofheid-syndroom</Synonym> |
| 311062 | ······</SynonymList> | 310983 | ······</SynonymList> |
| 311063 | ······<DisorderType·id="21394"> | 310984 | ······<DisorderType·id="21394"> |
| 311064 | ········<Name·lang="nl">Ziekte</Name> | 310985 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 311200 | ····<Disorder·id="18861"> | 311121 | ····<Disorder·id="18861"> |
| 311201 | ······<OrphaCode>217560</OrphaCode> | 311122 | ······<OrphaCode>217560</OrphaCode> |
| 311202 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=217560</ExpertLink> | 311123 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=217560</ExpertLink> |
| 311203 | ······<Name·lang="nl">Neuro-endocriene·celhyperplasie·van·de·vroege·kindertijd</Name> | 311124 | ······<Name·lang="nl">Hyperplasie·van·neuro-endocriene·cellen·in·de·zuigelingentijd</Name> |
| 311204 | ······<DisorderFlagList·count="1"> | 311125 | ······<DisorderFlagList·count="1"> |
| 311205 | ········<DisorderFlag·id="475"> | 311126 | ········<DisorderFlag·id="475"> |
| 311206 | ··········<Value>1</Value> | 311127 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 313964 | ······</ExternalReferenceList> | 313885 | ······</ExternalReferenceList> |
| 313965 | ······<DisorderDisorderAssociationList·count="0"> | 313886 | ······<DisorderDisorderAssociationList·count="0"> |
| 313966 | ······</DisorderDisorderAssociationList> | 313887 | ······</DisorderDisorderAssociationList> |
| 313967 | ······<SummaryInformationList·count="1"> | 313888 | ······<SummaryInformationList·count="0"> |
| 313968 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 313969 | ··········<TextSectionList·count="0"> | |
| 313970 | ··········</TextSectionList> | |
| 313971 | ··········<TextAuto> | |
| 313972 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 313973 | ··········</TextAuto> | |
| 313974 | ········</SummaryInformation> | |
| 313975 | ······</SummaryInformationList> | 313889 | ······</SummaryInformationList> |
| 313976 | ····</Disorder> | 313890 | ····</Disorder> |
| 313977 | ····<Disorder·id="3441"> | 313891 | ····<Disorder·id="3441"> |
| ⋮ | ⋮ |
| 314674 | ····<Disorder·id="3343"> | 314588 | ····<Disorder·id="3343"> |
| 314675 | ······<OrphaCode>159</OrphaCode> | 314589 | ······<OrphaCode>159</OrphaCode> |
| 314676 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=159</ExpertLink> | 314590 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=159</ExpertLink> |
| 314677 | ······<Name·lang="nl">Carnitine-acylcarnitine·translocasedeficiëntie</Name> | 314591 | ······<Name·lang="nl">Deficiëntie·van·carnitine-acylcarnitine·translocase</Name> |
| 314678 | ······<DisorderFlagList·count="1"> | 314592 | ······<DisorderFlagList·count="1"> |
| 314679 | ········<DisorderFlag·id="475"> | 314593 | ········<DisorderFlag·id="475"> |
| 314680 | ··········<Value>1</Value> | 314594 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 315706 | ········</DisorderFlag> | 315620 | ········</DisorderFlag> |
| 315707 | ······</DisorderFlagList> | 315621 | ······</DisorderFlagList> |
| 315708 | ······<SynonymList·count="6"> | 315622 | ······<SynonymList·count="6"> |
| | 315623 | ········<Synonym·lang="nl">Deficiëntie·van·histidase</Synonym> |
| | 315624 | ········<Synonym·lang="nl">Deficiëntie·van·histidine-ammoniak-lyase</Synonym> |
| 315709 | ········<Synonym·lang="nl">HAL-deficiëntie</Synonym> | 315625 | ········<Synonym·lang="nl">HAL-deficiëntie</Synonym> |
| 315710 | ········<Synonym·lang="nl">HIS-deficiëntie</Synonym> | 315626 | ········<Synonym·lang="nl">HIS-deficiëntie</Synonym> |
| 315711 | ········<Synonym·lang="nl">Histidasedeficiëntie</Synonym> | |
| 315712 | ········<Synonym·lang="nl">Histidine·ammonia-lyasedeficiëntie</Synonym> | |
| 315713 | ········<Synonym·lang="nl">Histidinurie</Synonym> | 315627 | ········<Synonym·lang="nl">Histidinurie</Synonym> |
| 315714 | ········<Synonym·lang="nl">Hyperhistidinemie</Synonym> | 315628 | ········<Synonym·lang="nl">Hyperhistidinemie</Synonym> |
| 315715 | ······</SynonymList> | 315629 | ······</SynonymList> |
| ⋮ | ⋮ |
| 317685 | ····<Disorder·id="3374"> | 317599 | ····<Disorder·id="3374"> |
| 317686 | ······<OrphaCode>2880</OrphaCode> | 317600 | ······<OrphaCode>2880</OrphaCode> |
| 317687 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=2880</ExpertLink> | 317601 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=2880</ExpertLink> |
| 317688 | ······<Name·lang="nl">Fosfo-enolpyruvaat-carboxykinasedeficiëntie</Name> | 317602 | ······<Name·lang="nl">Deficiëntie·van·fosfo-enolpyruvaat-carboxykinase</Name> |
| 317689 | ······<DisorderFlagList·count="1"> | 317603 | ······<DisorderFlagList·count="1"> |
| 317690 | ········<DisorderFlag·id="475"> | 317604 | ········<DisorderFlag·id="475"> |
| 317691 | ··········<Value>1</Value> | 317605 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 317765 | ··········<TargetDisorder·id="3374"·cycle="true"/> | 317679 | ··········<TargetDisorder·id="3374"·cycle="true"/> |
| 317766 | ··········<RootDisorder·id="11342"> | 317680 | ··········<RootDisorder·id="11342"> |
| 317767 | ············<OrphaCode>79316</OrphaCode> | 317681 | ············<OrphaCode>79316</OrphaCode> |
| 317768 | ············<Name·lang="nl">OBSOLEET:·Fosfo-enolpyruvaatcarboxykinase·1-deficiëntie</Name> | 317682 | ············<Name·lang="nl">OBSOLEET:·Deficiëntie·van·fosfo-enolpyruvaat-carboxykinase·1</Name> |
| 317769 | ··········</RootDisorder> | 317683 | ··········</RootDisorder> |
| 317770 | ··········<DisorderDisorderAssociationType·id="27341"> | 317684 | ··········<DisorderDisorderAssociationType·id="27341"> |
| 317771 | ············<Name·lang="nl">Referred·to</Name> | 317685 | ············<Name·lang="nl">Referred·to</Name> |
| ⋮ | ⋮ |
| 317775 | ··········<TargetDisorder·id="3374"·cycle="true"/> | 317689 | ··········<TargetDisorder·id="3374"·cycle="true"/> |
| 317776 | ··········<RootDisorder·id="11343"> | 317690 | ··········<RootDisorder·id="11343"> |
| 317777 | ············<OrphaCode>79317</OrphaCode> | 317691 | ············<OrphaCode>79317</OrphaCode> |
| 317778 | ············<Name·lang="nl">OBSOLEET:·Fosfo-enolpyruvaatcarboxykinase·2-deficiëntie</Name> | 317692 | ············<Name·lang="nl">OBSOLEET:·Deficiëntie·van·fosfo-enolpyruvaat-carboxykinase·2</Name> |
| 317779 | ··········</RootDisorder> | 317693 | ··········</RootDisorder> |
| 317780 | ··········<DisorderDisorderAssociationType·id="27341"> | 317694 | ··········<DisorderDisorderAssociationType·id="27341"> |
| 317781 | ············<Name·lang="nl">Referred·to</Name> | 317695 | ············<Name·lang="nl">Referred·to</Name> |
| ⋮ | ⋮ |
| 320639 | ····<Disorder·id="18932"> | 320553 | ····<Disorder·id="18932"> |
| 320640 | ······<OrphaCode>221043</OrphaCode> | 320554 | ······<OrphaCode>221043</OrphaCode> |
| 320641 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=221043</ExpertLink> | 320555 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=221043</ExpertLink> |
| 320642 | ······<Name·lang="nl">Erfelijke·fibroserende·poikilodermie·-·peescontracturen·-·myopathie·-·pulmonale·fibrose-syndroom</Name> | 320556 | ······<Name·lang="nl">Erfelijke·fibroserende·poikilodermie·-·peescontracturen·-·myopathie·-·longfibrose-syndroom</Name> |
| 320643 | ······<DisorderFlagList·count="1"> | 320557 | ······<DisorderFlagList·count="1"> |
| 320644 | ········<DisorderFlag·id="475"> | 320558 | ········<DisorderFlag·id="475"> |
| 320645 | ··········<Value>1</Value> | 320559 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 322772 | ······</ExternalReferenceList> | 322686 | ······</ExternalReferenceList> |
| 322773 | ······<DisorderDisorderAssociationList·count="0"> | 322687 | ······<DisorderDisorderAssociationList·count="0"> |
| 322774 | ······</DisorderDisorderAssociationList> | 322688 | ······</DisorderDisorderAssociationList> |
| 322775 | ······<SummaryInformationList·count="0"> | 322689 | ······<SummaryInformationList·count="1"> |
| | 322690 | ········<SummaryInformation·id="128996"·lang="nl"> |
| | 322691 | ··········<TextSectionList·count="1"> |
| | 322692 | ············<TextSection·id="167920"·lang="nl"> |
| | 322693 | ··············<TextSectionType·id="16907"> |
| | 322694 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 322695 | ··············</TextSectionType> |
| | 322696 | ··············<Contents>Een·zeldzame·kiemceltumor,·gekarakteriseerd·door·verschillende·patronen·die·endodermale·extra-embryonale·differentiatie·(secundaire·dooierzak·en·allantoïs)·of·endodermale·somatische·weefsels·(darm,·lever,·en·mesenchym)·weerspiegelen.·De·tumoren·treden·doorgaans·op·in·het·tweede·of·derde·levensdecennium.·Doorgaans·zijn·ze·gesitueerd·in·de·gonaden,·maar·soms·ook·in·andere·lichaamsdelen.·Patiënten·present·eren·zich·met·een·massa·in·het·bekken·en/of·abdominale·pijn·(vrouwen)·of·een·vaak·pijnloze,·unilaterale·massa·in·een·teelbal·(mannen).·Verhoogd·gehalte·van·alfafoetoproteïne·is·een·gangbare·laboratoriumbevinding.</Contents> |
| | 322697 | ············</TextSection> |
| | 322698 | ··········</TextSectionList> |
| | 322699 | ········</SummaryInformation> |
| 322776 | ······</SummaryInformationList> | 322700 | ······</SummaryInformationList> |
| 322777 | ····</Disorder> | 322701 | ····</Disorder> |
| 322778 | ····<Disorder·id="19057"> | 322702 | ····<Disorder·id="19057"> |
| ⋮ | ⋮ |
| 323981 | ······<DisorderGroup·id="36547"> | 323905 | ······<DisorderGroup·id="36547"> |
| 323982 | ········<Name·lang="nl">Aandoening</Name> | 323906 | ········<Name·lang="nl">Aandoening</Name> |
| 323983 | ······</DisorderGroup> | 323907 | ······</DisorderGroup> |
| 323984 | ······<ExternalReferenceList·count="11"> | 323908 | ······<ExternalReferenceList·count="12"> |
| 323985 | ········<ExternalReference·id="145480"> | 323909 | ········<ExternalReference·id="145480"> |
| 323986 | ··········<Source>GARD</Source> | 323910 | ··········<Source>GARD</Source> |
| 323987 | ··········<Reference>4894</Reference> | 323911 | ··········<Reference>4894</Reference> |
| ⋮ | ⋮ |
| 324015 | ············<Name·lang="nl">Gevalideerd</Name> | 323939 | ············<Name·lang="nl">Gevalideerd</Name> |
| 324016 | ··········</DisorderMappingValidationStatus> | 323940 | ··········</DisorderMappingValidationStatus> |
| 324017 | ········</ExternalReference> | 323941 | ········</ExternalReference> |
| | 323942 | ········<ExternalReference·id="200334"> |
| | 323943 | ··········<Source>ICD-10</Source> |
| | 323944 | ··········<Reference>C91.8</Reference> |
| | 323945 | ··········<DisorderMappingRelation·id="21541"> |
| | 323946 | ············<Name·lang="nl">BTNT·(Bredere·Term·van·ORPHA-code·mapt·naar·een·Nauwere·Term)</Name> |
| | 323947 | ··········</DisorderMappingRelation> |
| | 323948 | ··········<DisorderMappingICDRelation·id="21583"> |
| | 323949 | ············<Name·lang="nl">Inclusieterm·(De·ORPHA-code·is·opgenomen·in·een·ICD10-categorie·en·heeft·geen·eigen·code)</Name> |
| | 323950 | ··········</DisorderMappingICDRelation> |
| | 323951 | ··········<DisorderMappingValidationStatus·id="21611"> |
| | 323952 | ············<Name·lang="nl">Gevalideerd</Name> |
| | 323953 | ··········</DisorderMappingValidationStatus> |
| | 323954 | ········</ExternalReference> |
| 324018 | ········<ExternalReference·id="112356"> | 323955 | ········<ExternalReference·id="112356"> |
| 324019 | ··········<Source>MedDRA</Source> | 323956 | ··········<Source>MedDRA</Source> |
| 324020 | ··········<Reference>10006595</Reference> | 323957 | ··········<Reference>10006595</Reference> |
| ⋮ | ⋮ |
| 324048 | ············<Name·lang="nl">Gevalideerd</Name> | 323985 | ············<Name·lang="nl">Gevalideerd</Name> |
| 324049 | ··········</DisorderMappingValidationStatus> | 323986 | ··········</DisorderMappingValidationStatus> |
| 324050 | ········</ExternalReference> | 323987 | ········</ExternalReference> |
| 324051 | ········<ExternalReference·id="112364"> | 323988 | ········<ExternalReference·id="200335"> |
| 324052 | ··········<Source>ICD-10</Source> | 323989 | ··········<Source>ICD-10</Source> |
| 324053 | ··········<Reference>C83.7</Reference> | 323990 | ··········<Reference>C83.7</Reference> |
| 324054 | ··········<DisorderMappingRelation·id="21527"> | 323991 | ··········<DisorderMappingRelation·id="21541"> |
| 324055 | ············<Name·lang="nl">exacte·overeenkomst·(de·termen·en·concepten·zijn·equivalent)</Name> | 323992 | ············<Name·lang="nl">BTNT·(Bredere·Term·van·ORPHA-code·mapt·naar·een·Nauwere·Term)</Name> |
| 324056 | ··········</DisorderMappingRelation> | 323993 | ··········</DisorderMappingRelation> |
| 324057 | ··········<DisorderMappingICDRelation·id="21583"> | 323994 | ··········<DisorderMappingICDRelation·id="21583"> |
| 324058 | ············<Name·lang="nl">Inclusieterm·(De·ORPHA-code·is·opgenomen·in·een·ICD10-categorie·en·heeft·geen·eigen·code)</Name> | 323995 | ············<Name·lang="nl">Inclusieterm·(De·ORPHA-code·is·opgenomen·in·een·ICD10-categorie·en·heeft·geen·eigen·code)</Name> |
| ⋮ | ⋮ |
| 324456 | ······</ExternalReferenceList> | 324393 | ······</ExternalReferenceList> |
| 324457 | ······<DisorderDisorderAssociationList·count="0"> | 324394 | ······<DisorderDisorderAssociationList·count="0"> |
| 324458 | ······</DisorderDisorderAssociationList> | 324395 | ······</DisorderDisorderAssociationList> |
| 324459 | ······<SummaryInformationList·count="0"> | 324396 | ······<SummaryInformationList·count="1"> |
| | 324397 | ········<SummaryInformation·id="129111"·lang="nl"> |
| | 324398 | ··········<TextSectionList·count="1"> |
| | 324399 | ············<TextSection·id="167964"·lang="nl"> |
| | 324400 | ··············<TextSectionType·id="16907"> |
| | 324401 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 324402 | ··············</TextSectionType> |
| | 324403 | ··············<Contents>Een·zeldzame,·genetische·gynaecologische·tumor,·gekarakteriseerd·door·vroeg·optredende·borstkanker·in·associatie·met·een·kiembaanmutatie.·Tumoren·die·ontstaan·bij·dragers·van·mutaties·in·<i>BRCA1</i>·en·<i>BRCA2</i>·verschillen·morfologisch·en·genetisch·van·elkaar,·alsook·van·sporadische·borstkankers.·De·meeste·<i>BRCA1</i>-geassocieerde·tumoren·zijn·invasieve·ductale·adenocarcinomen·van·geen·bepaald·type,·doorgaans·met·een·hogere·graad·dan·sporadische·tumoren,·en·vaker·negatief·voor·hormoonreceptoren.·Daarenboven·worden·bij·deze·patiënten·meer·gevallen·met·kenmerken·van·typisch·of·atypisch·medullair·carcinoom·waargenomen.·Ook·<i>BRCA2</i>-geassocieerde·tumoren·hebben·eerder·een·hogere·graad·dan·sporadische·tumoren,·hoewel·hun·fenotypes·gelijkaardig·zijn.·Deze·tumoren·tonen·weinig·expressie·van·HER-2.</Contents> |
| | 324404 | ············</TextSection> |
| | 324405 | ··········</TextSectionList> |
| | 324406 | ········</SummaryInformation> |
| 324460 | ······</SummaryInformationList> | 324407 | ······</SummaryInformationList> |
| 324461 | ····</Disorder> | 324408 | ····</Disorder> |
| 324462 | ····<Disorder·id="3758"> | 324409 | ····<Disorder·id="3758"> |
| ⋮ | ⋮ |
| 324916 | ··········</DisorderMappingValidationStatus> | 324863 | ··········</DisorderMappingValidationStatus> |
| 324917 | ········</ExternalReference> | 324864 | ········</ExternalReference> |
| 324918 | ······</ExternalReferenceList> | 324865 | ······</ExternalReferenceList> |
| 324919 | ······<DisorderDisorderAssociationList·count="0"> | 324866 | ······<DisorderDisorderAssociationList·count="1"> |
| | 324867 | ········<DisorderDisorderAssociation> |
| | 324868 | ··········<TargetDisorder·id="19029"·cycle="true"/> |
| | 324869 | ··········<RootDisorder·id="19034"> |
| | 324870 | ············<OrphaCode>226310</OrphaCode> |
| | 324871 | ············<Name·lang="nl">Perifere·hypthyreoïdie</Name> |
| | 324872 | ··········</RootDisorder> |
| | 324873 | ··········<DisorderDisorderAssociationType·id="27341"> |
| | 324874 | ············<Name·lang="nl">Referred·to</Name> |
| | 324875 | ··········</DisorderDisorderAssociationType> |
| | 324876 | ········</DisorderDisorderAssociation> |
| 324920 | ······</DisorderDisorderAssociationList> | 324877 | ······</DisorderDisorderAssociationList> |
| 324921 | ······<SummaryInformationList·count="1"> | 324878 | ······<SummaryInformationList·count="0"> |
| 324922 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 324923 | ··········<TextSectionList·count="0"> | |
| 324924 | ··········</TextSectionList> | |
| 324925 | ··········<TextAuto> | |
| 324926 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 324927 | ··········</TextAuto> | |
| 324928 | ········</SummaryInformation> | |
| 324929 | ······</SummaryInformationList> | 324879 | ······</SummaryInformationList> |
| 324930 | ····</Disorder> | 324880 | ····</Disorder> |
| 324931 | ····<Disorder·id="3732"> | 324881 | ····<Disorder·id="3732"> |
| ⋮ | ⋮ |
| 325177 | ······</ExternalReferenceList> | 325127 | ······</ExternalReferenceList> |
| 325178 | ······<DisorderDisorderAssociationList·count="0"> | 325128 | ······<DisorderDisorderAssociationList·count="0"> |
| 325179 | ······</DisorderDisorderAssociationList> | 325129 | ······</DisorderDisorderAssociationList> |
| 325180 | ······<SummaryInformationList·count="1"> | 325130 | ······<SummaryInformationList·count="0"> |
| 325181 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 325182 | ··········<TextSectionList·count="0"> | |
| 325183 | ··········</TextSectionList> | |
| 325184 | ··········<TextAuto> | |
| 325185 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 325186 | ··········</TextAuto> | |
| 325187 | ········</SummaryInformation> | |
| 325188 | ······</SummaryInformationList> | 325131 | ······</SummaryInformationList> |
| 325189 | ····</Disorder> | 325132 | ····</Disorder> |
| 325190 | ····<Disorder·id="3734"> | 325133 | ····<Disorder·id="3734"> |
| ⋮ | ⋮ |
| 325432 | ······</ExternalReferenceList> | 325375 | ······</ExternalReferenceList> |
| 325433 | ······<DisorderDisorderAssociationList·count="0"> | 325376 | ······<DisorderDisorderAssociationList·count="0"> |
| 325434 | ······</DisorderDisorderAssociationList> | 325377 | ······</DisorderDisorderAssociationList> |
| 325435 | ······<SummaryInformationList·count="1"> | 325378 | ······<SummaryInformationList·count="0"> |
| 325436 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 325437 | ··········<TextSectionList·count="0"> | |
| 325438 | ··········</TextSectionList> | |
| 325439 | ··········<TextAuto> | |
| 325440 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 325441 | ··········</TextAuto> | |
| 325442 | ········</SummaryInformation> | |
| 325443 | ······</SummaryInformationList> | 325379 | ······</SummaryInformationList> |
| 325444 | ····</Disorder> | 325380 | ····</Disorder> |
| 325445 | ····<Disorder·id="3728"> | 325381 | ····<Disorder·id="3728"> |
| ⋮ | ⋮ |
| 325890 | ····<Disorder·id="3737"> | 325826 | ····<Disorder·id="3737"> |
| 325891 | ······<OrphaCode>3148</OrphaCode> | 325827 | ······<OrphaCode>3148</OrphaCode> |
| 325892 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=3148</ExpertLink> | 325828 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=3148</ExpertLink> |
| 325893 | ······<Name·lang="nl">Maligne·perifere·zenuwschedetumor</Name> | 325829 | ······<Name·lang="nl">Maligne·tumor·van·perifere·zenuwschede</Name> |
| 325894 | ······<DisorderFlagList·count="1"> | 325830 | ······<DisorderFlagList·count="1"> |
| 325895 | ········<DisorderFlag·id="475"> | 325831 | ········<DisorderFlag·id="475"> |
| 325896 | ··········<Value>1</Value> | 325832 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 326136 | ··········<Value>8192</Value> | 326072 | ··········<Value>8192</Value> |
| 326137 | ··········<Label>Inactive</Label> | 326073 | ··········<Label>Inactive</Label> |
| 326138 | ········</DisorderFlag> | 326074 | ········</DisorderFlag> |
| 326139 | ········<DisorderFlag·id="461"> | 326075 | ········<DisorderFlag·id="455"> |
| 326140 | ··········<Value>1024</Value> | 326076 | ··········<Value>16</Value> |
| 326141 | ··········<Label>Obsolete·with·resources</Label> | 326077 | ··········<Label>Obsolete·entity</Label> |
| 326142 | ········</DisorderFlag> | 326078 | ········</DisorderFlag> |
| 326143 | ······</DisorderFlagList> | 326079 | ······</DisorderFlagList> |
| 326144 | ······<SynonymList·count="0"> | 326080 | ······<SynonymList·count="0"> |
| ⋮ | ⋮ |
| 326151 | ······</DisorderGroup> | 326087 | ······</DisorderGroup> |
| 326152 | ······<ExternalReferenceList·count="0"> | 326088 | ······<ExternalReferenceList·count="0"> |
| 326153 | ······</ExternalReferenceList> | 326089 | ······</ExternalReferenceList> |
| 326154 | ······<DisorderDisorderAssociationList·count="0"> | 326090 | ······<DisorderDisorderAssociationList·count="1"> |
| | 326091 | ········<DisorderDisorderAssociation> |
| | 326092 | ··········<TargetDisorder·id="19029"> |
| | 326093 | ············<OrphaCode>226292</OrphaCode> |
| | 326094 | ············<Name·lang="nl">Permanente·congenitale·hypothyreoïdie</Name> |
| | 326095 | ··········</TargetDisorder> |
| | 326096 | ··········<RootDisorder·id="19034"·cycle="true"/> |
| | 326097 | ··········<DisorderDisorderAssociationType·id="27341"> |
| | 326098 | ············<Name·lang="nl">Referred·to</Name> |
| | 326099 | ··········</DisorderDisorderAssociationType> |
| | 326100 | ········</DisorderDisorderAssociation> |
| 326155 | ······</DisorderDisorderAssociationList> | 326101 | ······</DisorderDisorderAssociationList> |
| 326156 | ······<SummaryInformationList·count="0"> | 326102 | ······<SummaryInformationList·count="1"> |
| | 326103 | ········<SummaryInformation·id="-1"·lang="nl"> |
| | 326104 | ··········<TextSectionList·count="0"> |
| | 326105 | ··········</TextSectionList> |
| | 326106 | ··········<TextAuto> |
| | 326107 | ············<Info·lang="nl">Deze·entiteit·werd·obsoleet·gemaakt·in·de·nomenclatuur·van·zeldzame·ziekten·van·Orphanet.<br/><br/>Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.<br/><br/>Overweeg·in·plaats·daarvan··Permanente·congenitale·hypothyreoïdie</Info> |
| | 326108 | ··········</TextAuto> |
| | 326109 | ········</SummaryInformation> |
| 326157 | ······</SummaryInformationList> | 326110 | ······</SummaryInformationList> |
| 326158 | ····</Disorder> | 326111 | ····</Disorder> |
| 326159 | ····<Disorder·id="3739"> | 326112 | ····<Disorder·id="3739"> |
| ⋮ | ⋮ |
| 328722 | ····<Disorder·id="19123"> | 328675 | ····<Disorder·id="19123"> |
| 328723 | ······<OrphaCode>228396</OrphaCode> | 328676 | ······<OrphaCode>228396</OrphaCode> |
| 328724 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=228396</ExpertLink> | 328677 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=228396</ExpertLink> |
| 328725 | ······<Name·lang="nl">Ptose·-·bovenste·oculaire·bewegingsbeperking·-·afwezigheid·van·traanpunt-syndroom</Name> | 328678 | ······<Name·lang="nl">Ptosis·-·bovenste·oculaire·bewegingsbeperking·-·agenesie·van·punctum·lacrimale-syndroom</Name> |
| 328726 | ······<DisorderFlagList·count="1"> | 328679 | ······<DisorderFlagList·count="1"> |
| 328727 | ········<DisorderFlag·id="475"> | 328680 | ········<DisorderFlag·id="475"> |
| 328728 | ··········<Value>1</Value> | 328681 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 329185 | ······</ExternalReferenceList> | 329138 | ······</ExternalReferenceList> |
| 329186 | ······<DisorderDisorderAssociationList·count="0"> | 329139 | ······<DisorderDisorderAssociationList·count="0"> |
| 329187 | ······</DisorderDisorderAssociationList> | 329140 | ······</DisorderDisorderAssociationList> |
| 329188 | ······<SummaryInformationList·count="1"> | 329141 | ······<SummaryInformationList·count="0"> |
| 329189 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 329190 | ··········<TextSectionList·count="0"> | |
| 329191 | ··········</TextSectionList> | |
| 329192 | ··········<TextAuto> | |
| 329193 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 329194 | ··········</TextAuto> | |
| 329195 | ········</SummaryInformation> | |
| 329196 | ······</SummaryInformationList> | 329142 | ······</SummaryInformationList> |
| 329197 | ····</Disorder> | 329143 | ····</Disorder> |
| 329198 | ····<Disorder·id="19125"> | 329144 | ····<Disorder·id="19125"> |
| ⋮ | ⋮ |
| 330332 | ····<Disorder·id="19096"> | 330278 | ····<Disorder·id="19096"> |
| 330333 | ······<OrphaCode>228290</OrphaCode> | 330279 | ······<OrphaCode>228290</OrphaCode> |
| 330334 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=228290</ExpertLink> | 330280 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=228290</ExpertLink> |
| 330335 | ······<Name·lang="nl">Witte·vezelige·papulose·van·de·hals</Name> | 330281 | ······<Name·lang="nl">Witte·vezelige·papulose·van·hals</Name> |
| 330336 | ······<DisorderFlagList·count="1"> | 330282 | ······<DisorderFlagList·count="1"> |
| 330337 | ········<DisorderFlag·id="475"> | 330283 | ········<DisorderFlag·id="475"> |
| 330338 | ··········<Value>1</Value> | 330284 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 330639 | ····<Disorder·id="19102"> | 330585 | ····<Disorder·id="19102"> |
| 330640 | ······<OrphaCode>228312</OrphaCode> | 330586 | ······<OrphaCode>228312</OrphaCode> |
| 330641 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=228312</ExpertLink> | 330587 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=228312</ExpertLink> |
| 330642 | ······<Name·lang="nl">Auto-immune·hemolytische·anemie,·koud·type</Name> | 330588 | ······<Name·lang="nl">Auto-immuun·hemolytische·anemie,·koud·type</Name> |
| 330643 | ······<DisorderFlagList·count="1"> | 330589 | ······<DisorderFlagList·count="1"> |
| 330644 | ········<DisorderFlag·id="475"> | 330590 | ········<DisorderFlag·id="475"> |
| 330645 | ··········<Value>1</Value> | 330591 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 330685 | ······</ExternalReferenceList> | 330631 | ······</ExternalReferenceList> |
| 330686 | ······<DisorderDisorderAssociationList·count="0"> | 330632 | ······<DisorderDisorderAssociationList·count="0"> |
| 330687 | ······</DisorderDisorderAssociationList> | 330633 | ······</DisorderDisorderAssociationList> |
| 330688 | ······<SummaryInformationList·count="1"> | 330634 | ······<SummaryInformationList·count="0"> |
| 330689 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 330690 | ··········<TextSectionList·count="0"> | |
| 330691 | ··········</TextSectionList> | |
| 330692 | ··········<TextAuto> | |
| 330693 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 330694 | ··········</TextAuto> | |
| 330695 | ········</SummaryInformation> | |
| 330696 | ······</SummaryInformationList> | 330635 | ······</SummaryInformationList> |
| 330697 | ····</Disorder> | 330636 | ····</Disorder> |
| 330698 | ····<Disorder·id="19103"> | 330637 | ····<Disorder·id="19103"> |
| ⋮ | ⋮ |
| 330744 | ····<Disorder·id="19088"> | 330683 | ····<Disorder·id="19088"> |
| 330745 | ······<OrphaCode>228240</OrphaCode> | 330684 | ······<OrphaCode>228240</OrphaCode> |
| 330746 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=228240</ExpertLink> | 330685 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=228240</ExpertLink> |
| 330747 | ······<Name·lang="nl">Elastodermie</Name> | 330686 | ······<Name·lang="nl">Elastoderma</Name> |
| 330748 | ······<DisorderFlagList·count="1"> | 330687 | ······<DisorderFlagList·count="1"> |
| 330749 | ········<DisorderFlag·id="475"> | 330688 | ········<DisorderFlag·id="475"> |
| 330750 | ··········<Value>1</Value> | 330689 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 337994 | ····<Disorder·id="19146"> | 337933 | ····<Disorder·id="19146"> |
| 337995 | ······<OrphaCode>231013</OrphaCode> | 337934 | ······<OrphaCode>231013</OrphaCode> |
| 337996 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=231013</ExpertLink> | 337935 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=231013</ExpertLink> |
| 337997 | ······<Name·lang="nl">Congenitale·trigeminus-anesthesie</Name> | 337936 | ······<Name·lang="nl">Congenitale·anesthesie·van·nervus·trigeminus</Name> |
| 337998 | ······<DisorderFlagList·count="1"> | 337937 | ······<DisorderFlagList·count="1"> |
| 337999 | ········<DisorderFlag·id="475"> | 337938 | ········<DisorderFlag·id="475"> |
| 338000 | ··········<Value>1</Value> | 337939 | ··········<Value>1</Value> |
| 338001 | ··········<Label></Label> | 337940 | ··········<Label></Label> |
| 338002 | ········</DisorderFlag> | 337941 | ········</DisorderFlag> |
| 338003 | ······</DisorderFlagList> | 337942 | ······</DisorderFlagList> |
| 338004 | ······<SynonymList·count="0"> | 337943 | ······<SynonymList·count="1"> |
| | 337944 | ········<Synonym·lang="nl">Aangeboren·gevoelloosheid·van·drielingzenuw</Synonym> |
| 338005 | ······</SynonymList> | 337945 | ······</SynonymList> |
| 338006 | ······<DisorderType·id="21394"> | 337946 | ······<DisorderType·id="21394"> |
| 338007 | ········<Name·lang="nl">Ziekte</Name> | 337947 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 338796 | ······</ExternalReferenceList> | 338736 | ······</ExternalReferenceList> |
| 338797 | ······<DisorderDisorderAssociationList·count="0"> | 338737 | ······<DisorderDisorderAssociationList·count="0"> |
| 338798 | ······</DisorderDisorderAssociationList> | 338738 | ······</DisorderDisorderAssociationList> |
| 338799 | ······<SummaryInformationList·count="0"> | 338739 | ······<SummaryInformationList·count="1"> |
| | 338740 | ········<SummaryInformation·id="129006"·lang="nl"> |
| | 338741 | ··········<TextSectionList·count="1"> |
| | 338742 | ············<TextSection·id="167930"·lang="nl"> |
| | 338743 | ··············<TextSectionType·id="16907"> |
| | 338744 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 338745 | ··············</TextSectionType> |
| | 338746 | ··············<Contents>Een·zeldzame·hereditaire·amyloïdose·met·primaire·betrokkenheid·van·nier,·gekarakteriseerd·door·variabele·aanvang·van·nierinsufficiëntie·met·oedeem,·hypertensie,·proteïnurie·en·azotemie,·met·uiteindelijk·terminaal·nierfalen·tot·gevolg.·Amyloïdcardiomyopathie·en·histopathologisch·bewijs·van·depositie·van·amyloïd·in·andere·organen,·zoals·onder·meer·milt,·lever,·bijnier·en·pancreas,·werden·ook·reeds·beschreven.</Contents> |
| | 338747 | ············</TextSection> |
| | 338748 | ··········</TextSectionList> |
| | 338749 | ········</SummaryInformation> |
| 338800 | ······</SummaryInformationList> | 338750 | ······</SummaryInformationList> |
| 338801 | ····</Disorder> | 338751 | ····</Disorder> |
| 338802 | ····<Disorder·id="19263"> | 338752 | ····<Disorder·id="19263"> |
| ⋮ | ⋮ |
| 341164 | ······</ExternalReferenceList> | 341114 | ······</ExternalReferenceList> |
| 341165 | ······<DisorderDisorderAssociationList·count="0"> | 341115 | ······<DisorderDisorderAssociationList·count="0"> |
| 341166 | ······</DisorderDisorderAssociationList> | 341116 | ······</DisorderDisorderAssociationList> |
| 341167 | ······<SummaryInformationList·count="1"> | 341117 | ······<SummaryInformationList·count="0"> |
| 341168 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 341169 | ··········<TextSectionList·count="0"> | |
| 341170 | ··········</TextSectionList> | |
| 341171 | ··········<TextAuto> | |
| 341172 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 341173 | ··········</TextAuto> | |
| 341174 | ········</SummaryInformation> | |
| 341175 | ······</SummaryInformationList> | 341118 | ······</SummaryInformationList> |
| 341176 | ····</Disorder> | 341119 | ····</Disorder> |
| 341177 | ····<Disorder·id="19297"> | 341120 | ····<Disorder·id="19297"> |
| ⋮ | ⋮ |
| 341209 | ······</ExternalReferenceList> | 341152 | ······</ExternalReferenceList> |
| 341210 | ······<DisorderDisorderAssociationList·count="0"> | 341153 | ······<DisorderDisorderAssociationList·count="0"> |
| 341211 | ······</DisorderDisorderAssociationList> | 341154 | ······</DisorderDisorderAssociationList> |
| 341212 | ······<SummaryInformationList·count="1"> | 341155 | ······<SummaryInformationList·count="0"> |
| 341213 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 341214 | ··········<TextSectionList·count="0"> | |
| 341215 | ··········</TextSectionList> | |
| 341216 | ··········<TextAuto> | |
| 341217 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 341218 | ··········</TextAuto> | |
| 341219 | ········</SummaryInformation> | |
| 341220 | ······</SummaryInformationList> | 341156 | ······</SummaryInformationList> |
| 341221 | ····</Disorder> | 341157 | ····</Disorder> |
| 341222 | ····<Disorder·id="19298"> | 341158 | ····<Disorder·id="19298"> |
| ⋮ | ⋮ |
| 341563 | ····<Disorder·id="19269"> | 341499 | ····<Disorder·id="19269"> |
| 341564 | ······<OrphaCode>238505</OrphaCode> | 341500 | ······<OrphaCode>238505</OrphaCode> |
| 341565 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=238505</ExpertLink> | 341501 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=238505</ExpertLink> |
| 341566 | ······<Name·lang="nl">Autosomaal·recessieve·lymfoproliferatieve·ziekte</Name> | 341502 | ······<Name·lang="nl">Gecombineerde·immuundeficiëntie·door·deficiëntie·van·CD27</Name> |
| 341567 | ······<DisorderFlagList·count="1"> | 341503 | ······<DisorderFlagList·count="1"> |
| 341568 | ········<DisorderFlag·id="475"> | 341504 | ········<DisorderFlag·id="475"> |
| 341569 | ··········<Value>1</Value> | 341505 | ··········<Value>1</Value> |
| 341570 | ··········<Label></Label> | 341506 | ··········<Label></Label> |
| 341571 | ········</DisorderFlag> | 341507 | ········</DisorderFlag> |
| 341572 | ······</DisorderFlagList> | 341508 | ······</DisorderFlagList> |
| 341573 | ······<SynonymList·count="1"> | 341509 | ······<SynonymList·count="2"> |
| | 341510 | ········<Synonym·lang="nl">Autosomaal·recessieve·lymfoproliferatieve·ziekte·door·deficiëntie·van·CD27</Synonym> |
| 341574 | ········<Synonym·lang="nl">CD27-deficiëntie</Synonym> | 341511 | ········<Synonym·lang="nl">CD27-deficiëntie</Synonym> |
| 341575 | ······</SynonymList> | 341512 | ······</SynonymList> |
| 341576 | ······<DisorderType·id="21394"> | 341513 | ······<DisorderType·id="21394"> |
| ⋮ | ⋮ |
| 344066 | ······</ExternalReferenceList> | 344003 | ······</ExternalReferenceList> |
| 344067 | ······<DisorderDisorderAssociationList·count="0"> | 344004 | ······<DisorderDisorderAssociationList·count="0"> |
| 344068 | ······</DisorderDisorderAssociationList> | 344005 | ······</DisorderDisorderAssociationList> |
| 344069 | ······<SummaryInformationList·count="1"> | 344006 | ······<SummaryInformationList·count="0"> |
| 344070 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 344071 | ··········<TextSectionList·count="0"> | |
| 344072 | ··········</TextSectionList> | |
| 344073 | ··········<TextAuto> | |
| 344074 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 344075 | ··········</TextAuto> | |
| 344076 | ········</SummaryInformation> | |
| 344077 | ······</SummaryInformationList> | 344007 | ······</SummaryInformationList> |
| 344078 | ····</Disorder> | 344008 | ····</Disorder> |
| 344079 | ····<Disorder·id="21992"> | 344009 | ····<Disorder·id="21992"> |
| ⋮ | ⋮ |
| 344877 | ····<Disorder·id="21958"> | 344807 | ····<Disorder·id="21958"> |
| 344878 | ······<OrphaCode>330012</OrphaCode> | 344808 | ······<OrphaCode>330012</OrphaCode> |
| 344879 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=330012</ExpertLink> | 344809 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=330012</ExpertLink> |
| 344880 | ······<Name·lang="nl">Grote·hoogte·longoedeem</Name> | 344810 | ······<Name·lang="nl">Hoogtelongoedeem</Name> |
| 344881 | ······<DisorderFlagList·count="1"> | 344811 | ······<DisorderFlagList·count="1"> |
| 344882 | ········<DisorderFlag·id="475"> | 344812 | ········<DisorderFlag·id="475"> |
| 344883 | ··········<Value>1</Value> | 344813 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 344885 | ········</DisorderFlag> | 344815 | ········</DisorderFlag> |
| 344886 | ······</DisorderFlagList> | 344816 | ······</DisorderFlagList> |
| 344887 | ······<SynonymList·count="1"> | 344817 | ······<SynonymList·count="1"> |
| 344888 | ········<Synonym·lang="nl">HAPE</Synonym> | 344818 | ········<Synonym·lang="nl">Longoedeem·door·hoogteziekte</Synonym> |
| 344889 | ······</SynonymList> | 344819 | ······</SynonymList> |
| 344890 | ······<DisorderType·id="21429"> | 344820 | ······<DisorderType·id="21429"> |
| 344891 | ········<Name·lang="nl">Particulaire·klinische·situatie·binnen·een·ziekte·of·syndroom</Name> | 344821 | ········<Name·lang="nl">Particulaire·klinische·situatie·binnen·een·ziekte·of·syndroom</Name> |
| ⋮ | ⋮ |
| 345016 | ······</ExternalReferenceList> | 344946 | ······</ExternalReferenceList> |
| 345017 | ······<DisorderDisorderAssociationList·count="0"> | 344947 | ······<DisorderDisorderAssociationList·count="0"> |
| 345018 | ······</DisorderDisorderAssociationList> | 344948 | ······</DisorderDisorderAssociationList> |
| 345019 | ······<SummaryInformationList·count="1"> | 344949 | ······<SummaryInformationList·count="0"> |
| 345020 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 345021 | ··········<TextSectionList·count="0"> | |
| 345022 | ··········</TextSectionList> | |
| 345023 | ··········<TextAuto> | |
| 345024 | ············<Info·lang="nl">Deze·ziekte·is·niet·zeldzaam·in·Europa.·De·ziekte·maakt·geen·deel·uit·van·de·nomenclatuur·van·zeldzame·ziekten·van·Orphanet.</Info> | |
| 345025 | ··········</TextAuto> | |
| 345026 | ········</SummaryInformation> | |
| 345027 | ······</SummaryInformationList> | 344950 | ······</SummaryInformationList> |
| 345028 | ····</Disorder> | 344951 | ····</Disorder> |
| 345029 | ····<Disorder·id="21957"> | 344952 | ····<Disorder·id="21957"> |
| ⋮ | ⋮ |
| 345398 | ······<SynonymList·count="4"> | 345321 | ······<SynonymList·count="4"> |
| 345399 | ········<Synonym·lang="nl">Erfelijke·polymorfe·lichteruptie·van·Amerikaanse·Indianen</Synonym> | 345322 | ········<Synonym·lang="nl">Erfelijke·polymorfe·lichteruptie·van·Amerikaanse·Indianen</Synonym> |
| 345400 | ········<Synonym·lang="nl">Familiale·polymorfe·lichteruptie·van·Amerikaanse·Indianen</Synonym> | 345323 | ········<Synonym·lang="nl">Familiale·polymorfe·lichteruptie·van·Amerikaanse·Indianen</Synonym> |
| 345401 | ········<Synonym·lang="nl">Hutchinsons·zomerprurigo</Synonym> | |
| 345402 | ········<Synonym·lang="nl">Hydroa·aestivale</Synonym> | 345324 | ········<Synonym·lang="nl">Hydroa·aestivale</Synonym> |
| | 345325 | ········<Synonym·lang="nl">Zomerprurigo·van·Hutchinson</Synonym> |
| 345403 | ······</SynonymList> | 345326 | ······</SynonymList> |
| 345404 | ······<DisorderType·id="21394"> | 345327 | ······<DisorderType·id="21394"> |
| 345405 | ········<Name·lang="nl">Ziekte</Name> | 345328 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 346280 | ······</ExternalReferenceList> | 346203 | ······</ExternalReferenceList> |
| 346281 | ······<DisorderDisorderAssociationList·count="0"> | 346204 | ······<DisorderDisorderAssociationList·count="0"> |
| 346282 | ······</DisorderDisorderAssociationList> | 346205 | ······</DisorderDisorderAssociationList> |
| 346283 | ······<SummaryInformationList·count="1"> | 346206 | ······<SummaryInformationList·count="0"> |
| 346284 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 346285 | ··········<TextSectionList·count="0"> | |
| 346286 | ··········</TextSectionList> | |
| 346287 | ··········<TextAuto> | |
| 346288 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 346289 | ··········</TextAuto> | |
| 346290 | ········</SummaryInformation> | |
| 346291 | ······</SummaryInformationList> | 346207 | ······</SummaryInformationList> |
| 346292 | ····</Disorder> | 346208 | ····</Disorder> |
| 346293 | ····<Disorder·id="21947"> | 346209 | ····<Disorder·id="21947"> |
| ⋮ | ⋮ |
| 346431 | ····<Disorder·id="21924"> | 346347 | ····<Disorder·id="21924"> |
| 346432 | ······<OrphaCode>329308</OrphaCode> | 346348 | ······<OrphaCode>329308</OrphaCode> |
| 346433 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=329308</ExpertLink> | 346349 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=329308</ExpertLink> |
| 346434 | ······<Name·lang="nl">Vetzuurhydroxylasegeassocieerde·neurodegeneratie</Name> | 346350 | ······<Name·lang="nl">Neurodegeneratie·geassocieerd·met·vetzuurhydroxylase</Name> |
| 346435 | ······<DisorderFlagList·count="1"> | 346351 | ······<DisorderFlagList·count="1"> |
| 346436 | ········<DisorderFlag·id="475"> | 346352 | ········<DisorderFlag·id="475"> |
| 346437 | ··········<Value>1</Value> | 346353 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 346672 | ······<SynonymList·count="5"> | 346588 | ······<SynonymList·count="5"> |
| 346673 | ········<Synonym·lang="nl">BPAN</Synonym> | 346589 | ········<Synonym·lang="nl">BPAN</Synonym> |
| 346674 | ········<Synonym·lang="nl">NBIA5</Synonym> | 346590 | ········<Synonym·lang="nl">NBIA5</Synonym> |
| 346675 | ········<Synonym·lang="nl">Neurodegeneratie·met·ijzeropstapeling·in·de·hersenen·type·5</Synonym> | 346591 | ········<Synonym·lang="nl">Neurodegeneratie·met·ijzeropstapeling·in·hersenen·type·5</Synonym> |
| 346676 | ········<Synonym·lang="nl">SENDA</Synonym> | 346592 | ········<Synonym·lang="nl">SENDA</Synonym> |
| 346677 | ········<Synonym·lang="nl">Statische·encefalopathie·in·de·kindertijd·met·neurodegeneratie·in·de·volwassenheid</Synonym> | 346593 | ········<Synonym·lang="nl">Statische·encefalopathie·in·de·kindertijd·met·neurodegeneratie·in·de·volwassenheid</Synonym> |
| 346678 | ······</SynonymList> | 346594 | ······</SynonymList> |
| ⋮ | ⋮ |
| 352177 | ··········<Label></Label> | 352093 | ··········<Label></Label> |
| 352178 | ········</DisorderFlag> | 352094 | ········</DisorderFlag> |
| 352179 | ······</DisorderFlagList> | 352095 | ······</DisorderFlagList> |
| 352180 | ······<SynonymList·count="0"> | 352096 | ······<SynonymList·count="1"> |
| | 352097 | ········<Synonym·lang="nl">Sinusknoopdisfunctie·en·gehoorverlies</Synonym> |
| 352181 | ······</SynonymList> | 352098 | ······</SynonymList> |
| 352182 | ······<DisorderType·id="21394"> | 352099 | ······<DisorderType·id="21394"> |
| 352183 | ········<Name·lang="nl">Ziekte</Name> | 352100 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 352286 | ··········<Label></Label> | 352203 | ··········<Label></Label> |
| 352287 | ········</DisorderFlag> | 352204 | ········</DisorderFlag> |
| 352288 | ······</DisorderFlagList> | 352205 | ······</DisorderFlagList> |
| 352289 | ······<SynonymList·count="0"> | 352206 | ······<SynonymList·count="1"> |
| | 352207 | ········<Synonym·lang="nl">Ernstige·laterale·kromming·van·scheenbeen·met·kleine·lichaamslengte</Synonym> |
| 352290 | ······</SynonymList> | 352208 | ······</SynonymList> |
| 352291 | ······<DisorderType·id="21394"> | 352209 | ······<DisorderType·id="21394"> |
| 352292 | ········<Name·lang="nl">Ziekte</Name> | 352210 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 354855 | ····<Disorder·id="21685"> | 354773 | ····<Disorder·id="21685"> |
| 354856 | ······<OrphaCode>319640</OrphaCode> | 354774 | ······<OrphaCode>319640</OrphaCode> |
| 354857 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=319640</ExpertLink> | 354775 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=319640</ExpertLink> |
| 354858 | ······<Name·lang="nl">Retinale·maculaire·dystrofie·type·2</Name> | 354776 | ······<Name·lang="nl">Retinale·maculadystrofie·type·2</Name> |
| 354859 | ······<DisorderFlagList·count="1"> | 354777 | ······<DisorderFlagList·count="1"> |
| 354860 | ········<DisorderFlag·id="475"> | 354778 | ········<DisorderFlag·id="475"> |
| 354861 | ··········<Value>1</Value> | 354779 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 355332 | ····<Disorder·id="21692"> | 355250 | ····<Disorder·id="21692"> |
| 355333 | ······<OrphaCode>319678</OrphaCode> | 355251 | ······<OrphaCode>319678</OrphaCode> |
| 355334 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=319678</ExpertLink> | 355252 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=319678</ExpertLink> |
| 355335 | ······<Name·lang="nl">Encefalopathie·-·hypertrofische·cardiomyopathie·-·renale·tubulaire·ziekte-syndroom</Name> | 355253 | ······<Name·lang="nl">Encefalopathie·-·hypertrofische·cardiomyopathie·-·tubulaire·nierziekte-syndroom</Name> |
| 355336 | ······<DisorderFlagList·count="1"> | 355254 | ······<DisorderFlagList·count="1"> |
| 355337 | ········<DisorderFlag·id="475"> | 355255 | ········<DisorderFlag·id="475"> |
| 355338 | ··········<Value>1</Value> | 355256 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 355501 | ··············<TextSectionType·id="16907"> | 355419 | ··············<TextSectionType·id="16907"> |
| 355502 | ················<Name·lang="nl">Definitie·ziekte</Name> | 355420 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 355503 | ··············</TextSectionType> | 355421 | ··············</TextSectionType> |
| 355504 | ··············<Contents>Microcefale·primordiale·dwerggroei,·Alazami-type,·is·een·zeldzaam,·genetisch·syndroom·met·een·ontwikkelingsdefect·tijdens·de·embryogenese,·en·wordt·gekarakteriseerd·door·ernstige·intellectuele·achterstand,·typische·dysmorfe·gelaatskenmerken·(i.e.·driehoekig·gelaat·met·prominent·voorhoofd,·smalle·ooglidspleten,·diepliggende·ogen,·laagstaande·oren,·brede·neus,·malaire·hypoplasie,·kort·filtrum,·macrostomie,·ver·uit·elkaar·staande·tanden)·en·pre-·en·postnataal·proportioneel·kleine·gestalte,·gaande·van·primordiale·dwerggroei·(lengte·onder·-3.5·SD)·tot·een·milder·fenotype·met·minder·ernstige·groeirestrictie·(lengte·onder·-2.5·SD).·Andere·kenmerken·die·werden·gerapporteerd,·zijn·onder·meer·skeletafwijkingen·(e.g.·scoliose),·microcefalie,·onvrijwillige·handbewegingen,·hypersensitiviteit·voor·stimuli,·en·gedragsproblemen·zoals·angst.</Contents> | 355422 | ··············<Contents>Een·zeldzame·vorm·van·primordiale·dwerggroei,·vaak·microcefaal,·gekarakteriseerd·door·kleine·gestalte,·algehele·ontwikkelingsachterstand,·variabele·intellectuele·achterstand,·en·herkenbare·dysmorfe·gelaatskenmerken·(driehoekig·aangezicht,·prominent·voorhoofd,·diepliggende·ogen,·laagstaande·oren,·brede·neus,·hypoplasie·van·jukbeenderen,·brede·mond,·dikke·lippen,·en·ver·uit·elkaar·staande·tanden).</Contents> |
| 355505 | ············</TextSection> | 355423 | ············</TextSection> |
| 355506 | ··········</TextSectionList> | 355424 | ··········</TextSectionList> |
| 355507 | ········</SummaryInformation> | 355425 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 355946 | ····<Disorder·id="21634"> | 355864 | ····<Disorder·id="21634"> |
| 355947 | ······<OrphaCode>319247</OrphaCode> | 355865 | ······<OrphaCode>319247</OrphaCode> |
| 355948 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=319247</ExpertLink> | 355866 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=319247</ExpertLink> |
| 355949 | ······<Name·lang="nl">Hantavirus·pulmonair·syndroom</Name> | 355867 | ······<Name·lang="nl">Pulmonaal·syndroom·door·hantavirus</Name> |
| 355950 | ······<DisorderFlagList·count="1"> | 355868 | ······<DisorderFlagList·count="1"> |
| 355951 | ········<DisorderFlag·id="475"> | 355869 | ········<DisorderFlag·id="475"> |
| 355952 | ··········<Value>1</Value> | 355870 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 356655 | ······</ExternalReferenceList> | 356573 | ······</ExternalReferenceList> |
| 356656 | ······<DisorderDisorderAssociationList·count="0"> | 356574 | ······<DisorderDisorderAssociationList·count="0"> |
| 356657 | ······</DisorderDisorderAssociationList> | 356575 | ······</DisorderDisorderAssociationList> |
| 356658 | ······<SummaryInformationList·count="1"> | 356576 | ······<SummaryInformationList·count="0"> |
| 356659 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 356660 | ··········<TextSectionList·count="0"> | |
| 356661 | ··········</TextSectionList> | |
| 356662 | ··········<TextAuto> | |
| 356663 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 356664 | ··········</TextAuto> | |
| 356665 | ········</SummaryInformation> | |
| 356666 | ······</SummaryInformationList> | 356577 | ······</SummaryInformationList> |
| 356667 | ····</Disorder> | 356578 | ····</Disorder> |
| 356668 | ····<Disorder·id="21650"> | 356579 | ····<Disorder·id="21650"> |
| ⋮ | ⋮ |
| 357049 | ····<Disorder·id="21659"> | 356960 | ····<Disorder·id="21659"> |
| 357050 | ······<OrphaCode>319465</OrphaCode> | 356961 | ······<OrphaCode>319465</OrphaCode> |
| 357051 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=319465</ExpertLink> | 356962 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=319465</ExpertLink> |
| 357052 | ······<Name·lang="nl">Overgeërfde·acute·myeloïde·leukemie</Name> | 356963 | ······<Name·lang="nl">Erfelijke·acute·myeloïde·leukemie</Name> |
| 357053 | ······<DisorderFlagList·count="1"> | 356964 | ······<DisorderFlagList·count="1"> |
| 357054 | ········<DisorderFlag·id="475"> | 356965 | ········<DisorderFlag·id="475"> |
| 357055 | ··········<Value>1</Value> | 356966 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 357057 | ········</DisorderFlag> | 356968 | ········</DisorderFlag> |
| 357058 | ······</DisorderFlagList> | 356969 | ······</DisorderFlagList> |
| 357059 | ······<SynonymList·count="4"> | 356970 | ······<SynonymList·count="4"> |
| | 356971 | ········<Synonym·lang="nl">Erfelijke·AML</Synonym> |
| 357060 | ········<Synonym·lang="nl">Familiale·AML</Synonym> | 356972 | ········<Synonym·lang="nl">Familiale·AML</Synonym> |
| 357061 | ········<Synonym·lang="nl">Overgeërfde·AML</Synonym> | |
| 357062 | ········<Synonym·lang="nl">Zuivere·familiale·AML</Synonym> | 356973 | ········<Synonym·lang="nl">Zuivere·familiale·AML</Synonym> |
| 357063 | ········<Synonym·lang="nl">Zuivere·familiale·acute·myeloïde·leukemie</Synonym> | 356974 | ········<Synonym·lang="nl">Zuivere·familiale·acute·myeloïde·leukemie</Synonym> |
| 357064 | ······</SynonymList> | 356975 | ······</SynonymList> |
| ⋮ | ⋮ |
| 357112 | ····<Disorder·id="21658"> | 357023 | ····<Disorder·id="21658"> |
| 357113 | ······<OrphaCode>319462</OrphaCode> | 357024 | ······<OrphaCode>319462</OrphaCode> |
| 357114 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=319462</ExpertLink> | 357025 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=319462</ExpertLink> |
| 357115 | ······<Name·lang="nl">Overgeërfd·kankerpredispositiesyndroom·door·biallelische·BRCA2-mutaties</Name> | 357026 | ······<Name·lang="nl">Hereditair·kankerpredispositiesyndroom·door·biallelische·BRCA2-mutaties</Name> |
| 357116 | ······<DisorderFlagList·count="1"> | 357027 | ······<DisorderFlagList·count="1"> |
| 357117 | ········<DisorderFlag·id="475"> | 357028 | ········<DisorderFlag·id="475"> |
| 357118 | ··········<Value>1</Value> | 357029 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 357654 | ····<Disorder·id="21618"> | 357565 | ····<Disorder·id="21618"> |
| 357655 | ······<OrphaCode>319160</OrphaCode> | 357566 | ······<OrphaCode>319160</OrphaCode> |
| 357656 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=319160</ExpertLink> | 357567 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=319160</ExpertLink> |
| 357657 | ······<Name·lang="nl">Congenitale·myopathie·met·interne·nucleï·en·atypische·kernen</Name> | 357568 | ······<Name·lang="nl">Congenitale·myopathie·met·interne·nuclei·en·atypische·kernen</Name> |
| 357658 | ······<DisorderFlagList·count="1"> | 357569 | ······<DisorderFlagList·count="1"> |
| 357659 | ········<DisorderFlag·id="475"> | 357570 | ········<DisorderFlag·id="475"> |
| 357660 | ··········<Value>1</Value> | 357571 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 359244 | ······<DisorderDisorderAssociationList·count="0"> | 359155 | ······<DisorderDisorderAssociationList·count="0"> |
| 359245 | ······</DisorderDisorderAssociationList> | 359156 | ······</DisorderDisorderAssociationList> |
| 359246 | ······<SummaryInformationList·count="1"> | 359157 | ······<SummaryInformationList·count="1"> |
| 359247 | ········<SummaryInformation·id="104901"·lang="nl"> | 359158 | ········<SummaryInformation·id="-1"·lang="nl"> |
| 359248 | ··········<TextSectionList·count="1"> | 359159 | ··········<TextSectionList·count="0"> |
| 359249 | ············<TextSection·id="129257"·lang="nl"> | |
| 359250 | ··············<TextSectionType·id="16907"> | |
| 359251 | ················<Name·lang="nl">Definitie·ziekte</Name> | |
| 359252 | ··············</TextSectionType> | |
| 359253 | ··············<Contents>Primaire·systemische·amyloïdose·(PSA)·is·een·vorm·van·AL-amyloïdose·(zie·deze·term)·die·wordt·veroorzaakt·door·de·aggregatie·en·afzetting·van·onoplosbare·amyloïdfibrillen·afkomstig·van·verkeerd·gevouwen·monoklonale·lichte·ketens·van·immunoglobuline·die·meestal·geproduceerd·worden·door·plasmaceltumor·(zie·deze·term),·en·die·wordt·gekarakteriseerd·door·de·betrokkenheid·van·meerdere·organen.</Contents> | |
| 359254 | ············</TextSection> | |
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| | 359161 | ··········<TextAuto> |
| | 359162 | ············<Info·lang="nl">Deze·ziekte·is·beschreven·op··AL-amyloïdose</Info> |
| | 359163 | ··········</TextAuto> |
| 359256 | ········</SummaryInformation> | 359164 | ········</SummaryInformation> |
| 359257 | ······</SummaryInformationList> | 359165 | ······</SummaryInformationList> |
| 359258 | ····</Disorder> | 359166 | ····</Disorder> |
| ⋮ | ⋮ |
| 359360 | ········</DisorderDisorderAssociation> | 359268 | ········</DisorderDisorderAssociation> |
| 359361 | ······</DisorderDisorderAssociationList> | 359269 | ······</DisorderDisorderAssociationList> |
| 359362 | ······<SummaryInformationList·count="1"> | 359270 | ······<SummaryInformationList·count="1"> |
| 359363 | ········<SummaryInformation·id="104902"·lang="nl"> | 359271 | ········<SummaryInformation·id="-1"·lang="nl"> |
| 359364 | ··········<TextSectionList·count="1"> | 359272 | ··········<TextSectionList·count="0"> |
| 359365 | ············<TextSection·id="129258"·lang="nl"> | |
| 359366 | ··············<TextSectionType·id="16907"> | |
| 359367 | ················<Name·lang="nl">Definitie·ziekte</Name> | |
| 359368 | ··············</TextSectionType> | |
| 359369 | ··············<Contents>Primaire·gelokaliseerde·amyloïdose·is·een·vorm·van·AL-amyloïdose·(zie·deze·term)·die·wordt·veroorzaakt·door·de·aggregatie·van·onoplosbare·amyloïdfibrillen·afkomstig·van·verkeerd·gevouwen·monoklonale·lichte·ketens·van·immunoglobuline·die·meestal·geproduceerd·worden·door·plasmaceltumor·(zie·deze·term),·en·die·wordt·gekarakteriseerd·door·plaatselijke·afzetting·van·amyloïd·met·klinische·symptomen·die·beperkt·blijven·tot·het·getroffen·orgaan,·in·de·meeste·gevallen·het·urinewegstelsel·(blaas),·de·ogen,·de·luchtwegen·(larynx,·longen),·en·de·huid.</Contents> | |
| 359370 | ············</TextSection> | |
| 359371 | ··········</TextSectionList> | 359273 | ··········</TextSectionList> |
| | 359274 | ··········<TextAuto> |
| | 359275 | ············<Info·lang="nl">Deze·ziekte·is·beschreven·op··AL-amyloïdose</Info> |
| | 359276 | ··········</TextAuto> |
| 359372 | ········</SummaryInformation> | 359277 | ········</SummaryInformation> |
| 359373 | ······</SummaryInformationList> | 359278 | ······</SummaryInformationList> |
| 359374 | ····</Disorder> | 359279 | ····</Disorder> |
| ⋮ | ⋮ |
| 360785 | ····<Disorder·id="21523"> | 360690 | ····<Disorder·id="21523"> |
| 360786 | ······<OrphaCode>314749</OrphaCode> | 360691 | ······<OrphaCode>314749</OrphaCode> |
| 360787 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=314749</ExpertLink> | 360692 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=314749</ExpertLink> |
| 360788 | ······<Name·lang="nl">Zeldzame·ziekte·met·Cushingsyndroom·als·hoofdkenmerk</Name> | 360693 | ······<Name·lang="nl">Zeldzame·ziekte·met·syndroom·van·Cushing·als·hoofdkenmerk</Name> |
| 360789 | ······<DisorderFlagList·count="1"> | 360694 | ······<DisorderFlagList·count="1"> |
| 360790 | ········<DisorderFlag·id="475"> | 360695 | ········<DisorderFlag·id="475"> |
| 360791 | ··········<Value>1</Value> | 360696 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 361425 | ····<Disorder·id="22488"> | 361330 | ····<Disorder·id="22488"> |
| 361426 | ······<OrphaCode>370131</OrphaCode> | 361331 | ······<OrphaCode>370131</OrphaCode> |
| 361427 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=370131</ExpertLink> | 361332 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=370131</ExpertLink> |
| 361428 | ······<Name·lang="nl">White·bloedplaatjessyndroom</Name> | 361333 | ······<Name·lang="nl">White-bloedplaatjessyndroom</Name> |
| 361429 | ······<DisorderFlagList·count="1"> | 361334 | ······<DisorderFlagList·count="1"> |
| 361430 | ········<DisorderFlag·id="475"> | 361335 | ········<DisorderFlag·id="475"> |
| 361431 | ··········<Value>1</Value> | 361336 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 361902 | ··········<Label></Label> | 361807 | ··········<Label></Label> |
| 361903 | ········</DisorderFlag> | 361808 | ········</DisorderFlag> |
| 361904 | ······</DisorderFlagList> | 361809 | ······</DisorderFlagList> |
| 361905 | ······<SynonymList·count="0"> | 361810 | ······<SynonymList·count="1"> |
| | 361811 | ········<Synonym·lang="nl">Syndroom·bij·foetus·door·carbamazepine</Synonym> |
| 361906 | ······</SynonymList> | 361812 | ······</SynonymList> |
| 361907 | ······<DisorderType·id="21401"> | 361813 | ······<DisorderType·id="21401"> |
| 361908 | ········<Name·lang="nl">Malformatiesyndroom</Name> | 361814 | ········<Name·lang="nl">Malformatiesyndroom</Name> |
| ⋮ | ⋮ |
| 364241 | ··········<Label></Label> | 364147 | ··········<Label></Label> |
| 364242 | ········</DisorderFlag> | 364148 | ········</DisorderFlag> |
| 364243 | ······</DisorderFlagList> | 364149 | ······</DisorderFlagList> |
| 364244 | ······<SynonymList·count="1"> | 364150 | ······<SynonymList·count="2"> |
| | 364151 | ········<Synonym·lang="nl">Congenitale·erytrodermie·-·hypotrichose·-·recidiverende·infecties·-·meerdere·voedselallergieën-syndroom</Synonym> |
| 364245 | ········<Synonym·lang="nl">SAM-syndroom</Synonym> | 364152 | ········<Synonym·lang="nl">SAM-syndroom</Synonym> |
| 364246 | ······</SynonymList> | 364153 | ······</SynonymList> |
| 364247 | ······<DisorderType·id="21394"> | 364154 | ······<DisorderType·id="21394"> |
| ⋮ | ⋮ |
| 364294 | ····<Disorder·id="22461"> | 364201 | ····<Disorder·id="22461"> |
| 364295 | ······<OrphaCode>370002</OrphaCode> | 364202 | ······<OrphaCode>370002</OrphaCode> |
| 364296 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=370002</ExpertLink> | 364203 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=370002</ExpertLink> |
| 364297 | ······<Name·lang="nl">Focale·palmoplantaire·keratodermie·met·keratosen·aan·gewrichten</Name> | 364204 | ······<Name·lang="nl">Focale·palmoplantaire·keratodermie·met·keratosen·van·gewrichten</Name> |
| 364298 | ······<DisorderFlagList·count="1"> | 364205 | ······<DisorderFlagList·count="1"> |
| 364299 | ········<DisorderFlag·id="475"> | 364206 | ········<DisorderFlag·id="475"> |
| 364300 | ··········<Value>1</Value> | 364207 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 367774 | ····<Disorder·id="22382"> | 367681 | ····<Disorder·id="22382"> |
| 367775 | ······<OrphaCode>364577</OrphaCode> | 367682 | ······<OrphaCode>364577</OrphaCode> |
| 367776 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=364577</ExpertLink> | 367683 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=364577</ExpertLink> |
| 367777 | ······<Name·lang="nl">Intellectuele·achterstand·-·brachydactylie·-·syndroom·van·Pierre·Robin</Name> | 367684 | ······<Name·lang="nl">Intellectuele·achterstand·-·brachydactylie·-·Pierre·Robin·sequentie-syndroom</Name> |
| 367778 | ······<DisorderFlagList·count="1"> | 367685 | ······<DisorderFlagList·count="1"> |
| 367779 | ········<DisorderFlag·id="475"> | 367686 | ········<DisorderFlag·id="475"> |
| 367780 | ··········<Value>1</Value> | 367687 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 368207 | ····<Disorder·id="22298"> | 368114 | ····<Disorder·id="22298"> |
| 368208 | ······<OrphaCode>363417</OrphaCode> | 368115 | ······<OrphaCode>363417</OrphaCode> |
| 368209 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=363417</ExpertLink> | 368116 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=363417</ExpertLink> |
| 368210 | ······<Name·lang="nl">Temtamy·preaxiale·brachydactylie-syndroom</Name> | 368117 | ······<Name·lang="nl">Preaxiale·brachydactylie·van·Temtamy-syndroom</Name> |
| 368211 | ······<DisorderFlagList·count="1"> | 368118 | ······<DisorderFlagList·count="1"> |
| 368212 | ········<DisorderFlag·id="475"> | 368119 | ········<DisorderFlag·id="475"> |
| 368213 | ··········<Value>1</Value> | 368120 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 368297 | ······</DisorderFlagList> | 368204 | ······</DisorderFlagList> |
| 368298 | ······<SynonymList·count="2"> | 368205 | ······<SynonymList·count="2"> |
| 368299 | ········<Synonym·lang="nl">LCCS5</Synonym> | 368206 | ········<Synonym·lang="nl">LCCS5</Synonym> |
| 368300 | ········<Synonym·lang="nl">Letale·congenitale·contractuur·syndroom·type·5</Synonym> | 368207 | ········<Synonym·lang="nl">Letale·congenitale·contracturen-syndroom·type·5</Synonym> |
| 368301 | ······</SynonymList> | 368208 | ······</SynonymList> |
| 368302 | ······<DisorderType·id="21394"> | 368209 | ······<DisorderType·id="21394"> |
| 368303 | ········<Name·lang="nl">Ziekte</Name> | 368210 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 368408 | ····<Disorder·id="22302"> | 368315 | ····<Disorder·id="22302"> |
| 368409 | ······<OrphaCode>363429</OrphaCode> | 368316 | ······<OrphaCode>363429</OrphaCode> |
| 368410 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=363429</ExpertLink> | 368317 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=363429</ExpertLink> |
| 368411 | ······<Name·lang="nl">Autosomaal·recessieve·cerebellaire·ataxie·-·piramidale·tekenen·-·nystagmus·-·oculomotorische·apraxie-syndroom</Name> | 368318 | ······<Name·lang="nl">Autosomaal·recessieve·cerebellaire·ataxie·-·piramidale·verschijnselen·-·nystagmus·-·oculomotorische·apraxie-syndroom</Name> |
| 368412 | ······<DisorderFlagList·count="1"> | 368319 | ······<DisorderFlagList·count="1"> |
| 368413 | ········<DisorderFlag·id="475"> | 368320 | ········<DisorderFlag·id="475"> |
| 368414 | ··········<Value>1</Value> | 368321 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 369885 | ··············<TextSectionType·id="16907"> | 369792 | ··············<TextSectionType·id="16907"> |
| 369886 | ················<Name·lang="nl">Definitie·ziekte</Name> | 369793 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 369887 | ··············</TextSectionType> | 369794 | ··············</TextSectionType> |
| 369888 | ··············<Contents>Intellectuele·achterstand·-·voedingsproblemen·-·ontwikkelingsachterstand·-·microcefalie-syndroom·is·een·zeldzame,·genetische,·syndromale·intellectuele·invaliditeit·die·gekarakteriseerd·wordt·door·marginale·tot·ernstige·intellectuele·achterstand,·algehele·ontwikkelingsachterstand,·voedingsproblemen,·microcefalie,·kleine·gestalte,·en·milde·faciale·dysmorfie,·met·onder·meer·dikke·wenkbrauwen,·lange·wimpers,·prominente·snijtanden·en/o·dunne·bovenlip.·Andere·mogelijk·geassocieerde·kenmerken·zijn·onder·meer·hypermetropie·met·of·zonder·esotropie,·gedragsanomalieën·(e.g.·autistisch·gedrag,·slaapstoornissen),·urogenitale·afwijkingen·(e.g.·cryptorchidie,·liesbreuk),·doorlopende·handlijn·op·de·handpalm,·clinodactylie·van·de·vijfde·vinger·en·hartdefecten·(e.g.·ASD,·PDA).</Contents> | 369795 | ··············<Contents>Een·zeldzame,·genetische·neurologische·ontwikkelingsstoornis,·gekarakteriseerd·door·algehele·ontwikkelingsachterstand,·marginale·tot·ernstige·intellectuele·achterstand,·voedingsproblemen,·gedragsanomalieën,·visuele·anomalieën,·en·milde·faciale·dysmorfie.·Overige·kenmerken·die·kunnen·geassocieerd·zijn,·zijn·onder·meer·microcefalie,·kleine·gestalte,·urogenitale·anomalieën,·afwijkingen·van·het·verhemelte·(e.g.·gespleten·verhemelte),·kleine·hartdefecten,·recidiverende·infecties,·of·gehoorverlies.</Contents> |
| 369889 | ············</TextSection> | 369796 | ············</TextSection> |
| 369890 | ··········</TextSectionList> | 369797 | ··········</TextSectionList> |
| 369891 | ········</SummaryInformation> | 369798 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 369949 | ······</ExternalReferenceList> | 369856 | ······</ExternalReferenceList> |
| 369950 | ······<DisorderDisorderAssociationList·count="0"> | 369857 | ······<DisorderDisorderAssociationList·count="0"> |
| 369951 | ······</DisorderDisorderAssociationList> | 369858 | ······</DisorderDisorderAssociationList> |
| 369952 | ······<SummaryInformationList·count="1"> | 369859 | ······<SummaryInformationList·count="0"> |
| 369953 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 369954 | ··········<TextSectionList·count="0"> | |
| 369955 | ··········</TextSectionList> | |
| 369956 | ··········<TextAuto> | |
| 369957 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 369958 | ··········</TextAuto> | |
| 369959 | ········</SummaryInformation> | |
| 369960 | ······</SummaryInformationList> | 369860 | ······</SummaryInformationList> |
| 369961 | ····</Disorder> | 369861 | ····</Disorder> |
| 369962 | ····<Disorder·id="22312"> | 369862 | ····<Disorder·id="22312"> |
| ⋮ | ⋮ |
| 370572 | ······</ExternalReferenceList> | 370472 | ······</ExternalReferenceList> |
| 370573 | ······<DisorderDisorderAssociationList·count="0"> | 370473 | ······<DisorderDisorderAssociationList·count="0"> |
| 370574 | ······</DisorderDisorderAssociationList> | 370474 | ······</DisorderDisorderAssociationList> |
| 370575 | ······<SummaryInformationList·count="0"> | 370475 | ······<SummaryInformationList·count="1"> |
| | 370476 | ········<SummaryInformation·id="128992"·lang="nl"> |
| | 370477 | ··········<TextSectionList·count="1"> |
| | 370478 | ············<TextSection·id="167916"·lang="nl"> |
| | 370479 | ··············<TextSectionType·id="16907"> |
| | 370480 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 370481 | ··············</TextSectionType> |
| | 370482 | ··············<Contents>Een·groep·van·zeldzame·tumoren·van·testis,·bestaande·uit·neoplasmata·van·zuiver·'sex·cord'-type·of·zuiver·stromaal·type,·of·neoplasmata·met·beide·componenten·in·verschillende·proporties·en·mate·van·differentiatie.·De·tumoren·presenteren·zich·meestal·als·een·pijnloze·massa·van·teelbal,·hoewel·sommigen·kunnen·geassocieerd·zijn·met·endocriene·manifestaties·zoals·vroegtijdige·puberteit,·gynaecomastie·of·erectiestoornis.·Maligne·gedrag·wordt·bij·slechts·een·klein·percentage·van·deze·tumoren·waargenomen.</Contents> |
| | 370483 | ············</TextSection> |
| | 370484 | ··········</TextSectionList> |
| | 370485 | ········</SummaryInformation> |
| 370576 | ······</SummaryInformationList> | 370486 | ······</SummaryInformationList> |
| 370577 | ····</Disorder> | 370487 | ····</Disorder> |
| 370578 | ····<Disorder·id="22310"> | 370488 | ····<Disorder·id="22310"> |
| ⋮ | ⋮ |
| 372481 | ····<Disorder·id="22091"> | 372391 | ····<Disorder·id="22091"> |
| 372482 | ······<OrphaCode>352649</OrphaCode> | 372392 | ······<OrphaCode>352649</OrphaCode> |
| 372483 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=352649</ExpertLink> | 372393 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=352649</ExpertLink> |
| 372484 | ······<Name·lang="nl">Defect·van·het·vesiculair·transport·van·dopamine·en·serotonine·in·de·hersenen</Name> | 372394 | ······<Name·lang="nl">Defect·van·vesiculair·transport·van·dopamine·en·serotonine·in·hersenen</Name> |
| 372485 | ······<DisorderFlagList·count="1"> | 372395 | ······<DisorderFlagList·count="1"> |
| 372486 | ········<DisorderFlag·id="475"> | 372396 | ········<DisorderFlag·id="475"> |
| 372487 | ··········<Value>1</Value> | 372397 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 372693 | ········<DisorderDisorderAssociation> | 372603 | ········<DisorderDisorderAssociation> |
| 372694 | ··········<TargetDisorder·id="22775"> | 372604 | ··········<TargetDisorder·id="22775"> |
| 372695 | ············<OrphaCode>399808</OrphaCode> | 372605 | ············<OrphaCode>399808</OrphaCode> |
| 372696 | ············<Name·lang="nl">Mannelijke·onvruchtbaarheid·met·teratozoöspermie·door·een·enkele·genmutatie</Name> | 372606 | ············<Name·lang="nl">Mannelijke·infertiliteit·met·teratozoöspermie·door·een·enkele·genmutatie</Name> |
| 372697 | ··········</TargetDisorder> | 372607 | ··········</TargetDisorder> |
| 372698 | ··········<RootDisorder·id="22086"·cycle="true"/> | 372608 | ··········<RootDisorder·id="22086"·cycle="true"/> |
| 372699 | ··········<DisorderDisorderAssociationType·id="21471"> | 372609 | ··········<DisorderDisorderAssociationType·id="21471"> |
| ⋮ | ⋮ |
| 373879 | ····<Disorder·id="22126"> | 373789 | ····<Disorder·id="22126"> |
| 373880 | ······<OrphaCode>353253</OrphaCode> | 373790 | ······<OrphaCode>353253</OrphaCode> |
| 373881 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=353253</ExpertLink> | 373791 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=353253</ExpertLink> |
| 373882 | ······<Name·lang="nl">Brandendemondsyndroom</Name> | 373792 | ······<Name·lang="nl">Syndroom·van·mondbranden</Name> |
| 373883 | ······<DisorderFlagList·count="1"> | 373793 | ······<DisorderFlagList·count="1"> |
| 373884 | ········<DisorderFlag·id="475"> | 373794 | ········<DisorderFlag·id="475"> |
| 373885 | ··········<Value>1</Value> | 373795 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 373888 | ······</DisorderFlagList> | 373798 | ······</DisorderFlagList> |
| 373889 | ······<SynonymList·count="6"> | 373799 | ······<SynonymList·count="6"> |
| 373890 | ········<Synonym·lang="nl">BMS</Synonym> | 373800 | ········<Synonym·lang="nl">BMS</Synonym> |
| 373891 | ········<Synonym·lang="nl">Mondbranden</Synonym> | 373801 | ········<Synonym·lang="nl">Brandende·mond-syndroom</Synonym> |
| 373892 | ········<Synonym·lang="nl">Orale·dysesthesie</Synonym> | 373802 | ········<Synonym·lang="nl">Orale·dysesthesie</Synonym> |
| 373893 | ········<Synonym·lang="nl">Orodynie</Synonym> | 373803 | ········<Synonym·lang="nl">Orodynie</Synonym> |
| 373894 | ········<Synonym·lang="nl">Stomatodynie</Synonym> | 373804 | ········<Synonym·lang="nl">Stomatodynie</Synonym> |
| 373895 | ········<Synonym·lang="nl">Stomatopyrosis</Synonym> | 373805 | ········<Synonym·lang="nl">Stomatopyrose</Synonym> |
| 373896 | ······</SynonymList> | 373806 | ······</SynonymList> |
| 373897 | ······<DisorderType·id="21394"> | 373807 | ······<DisorderType·id="21394"> |
| 373898 | ········<Name·lang="nl">Ziekte</Name> | 373808 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 374075 | ······</ExternalReferenceList> | 373985 | ······</ExternalReferenceList> |
| 374076 | ······<DisorderDisorderAssociationList·count="0"> | 373986 | ······<DisorderDisorderAssociationList·count="0"> |
| 374077 | ······</DisorderDisorderAssociationList> | 373987 | ······</DisorderDisorderAssociationList> |
| 374078 | ······<SummaryInformationList·count="0"> | 373988 | ······<SummaryInformationList·count="1"> |
| | 373989 | ········<SummaryInformation·id="129126"·lang="nl"> |
| | 373990 | ··········<TextSectionList·count="1"> |
| | 373991 | ············<TextSection·id="167979"·lang="nl"> |
| | 373992 | ··············<TextSectionType·id="16907"> |
| | 373993 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 373994 | ··············</TextSectionType> |
| | 373995 | ··············<Contents>Een·zeldzame·primaire·cutane·amyloïdose,·gekarakteriseerd·door·familiaal·voorkomen·van·lichen·amyloidosus·en/of·maculaire·amyloïdose·als·gevolg·van·fibrillaire·degeneratie·en·apoptose·van·basale·keratinocyten,·gevolgd·door·conversie·van·filamenteuze·massa's·tot·amyloïd·materiaal·in·het·stratum·papillare.·Patiënten·vertonen·doorgaans·een·pruritische·eruptie·van·gegroepeerde·hyperkeratotische·papels,·die·kunnen·samenvloeien·tot·hyperkeratotische·plaques,·met·een·voorkeur·voor·de·onderste·ledematen·(lichen·amyloidosus),·of·gehyperpigmenteerde·maculae,·soms·met·een·reticulair·patroon,·die·doorgaans·ontstaan·op·de·rug,·thorax·of·interscapulaire·gebieden·(maculaire·amyloïdose).</Contents> |
| | 373996 | ············</TextSection> |
| | 373997 | ··········</TextSectionList> |
| | 373998 | ········</SummaryInformation> |
| 374079 | ······</SummaryInformationList> | 373999 | ······</SummaryInformationList> |
| 374080 | ····</Disorder> | 374000 | ····</Disorder> |
| 374081 | ····<Disorder·id="22119"> | 374001 | ····<Disorder·id="22119"> |
| ⋮ | ⋮ |
| 374263 | ······<OrphaCode>352740</OrphaCode> | 374183 | ······<OrphaCode>352740</OrphaCode> |
| 374264 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=352740</ExpertLink> | 374184 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=352740</ExpertLink> |
| 374265 | ······<Name·lang="nl">Oculair·albinisme·met·congenitale·sensorineurale·doofheid</Name> | 374185 | ······<Name·lang="nl">Oculair·albinisme·met·congenitale·sensorineurale·doofheid</Name> |
| 374266 | ······<DisorderFlagList·count="1"> | 374186 | ······<DisorderFlagList·count="3"> |
| | 374187 | ········<DisorderFlag·id="495"> |
| | 374188 | ··········<Value>8192</Value> |
| | 374189 | ··········<Label>Inactive</Label> |
| | 374190 | ········</DisorderFlag> |
| | 374191 | ········<DisorderFlag·id="459"> |
| | 374192 | ··········<Value>256</Value> |
| | 374193 | ··········<Label>Deprecated·entity</Label> |
| | 374194 | ········</DisorderFlag> |
| 374267 | ········<DisorderFlag·id="475"> | 374195 | ········<DisorderFlag·id="475"> |
| 374268 | ··········<Value>1</Value> | 374196 | ··········<Value>1</Value> |
| 374269 | ··········<Label></Label> | 374197 | ··········<Label></Label> |
| ⋮ | ⋮ |
| 374281 | ······</DisorderGroup> | 374209 | ······</DisorderGroup> |
| 374282 | ······<ExternalReferenceList·count="0"> | 374210 | ······<ExternalReferenceList·count="0"> |
| 374283 | ······</ExternalReferenceList> | 374211 | ······</ExternalReferenceList> |
| 374284 | ······<DisorderDisorderAssociationList·count="0"> | 374212 | ······<DisorderDisorderAssociationList·count="1"> |
| | 374213 | ········<DisorderDisorderAssociation> |
| | 374214 | ··········<TargetDisorder·id="220"> |
| | 374215 | ············<OrphaCode>895</OrphaCode> |
| | 374216 | ············<Name·lang="nl">Syndroom·van·Waardenburg·type·2</Name> |
| | 374217 | ··········</TargetDisorder> |
| | 374218 | ··········<RootDisorder·id="22112"·cycle="true"/> |
| | 374219 | ··········<DisorderDisorderAssociationType·id="21471"> |
| | 374220 | ············<Name·lang="nl">Verplaatst·naar</Name> |
| | 374221 | ··········</DisorderDisorderAssociationType> |
| | 374222 | ········</DisorderDisorderAssociation> |
| 374285 | ······</DisorderDisorderAssociationList> | 374223 | ······</DisorderDisorderAssociationList> |
| 374286 | ······<SummaryInformationList·count="0"> | 374224 | ······<SummaryInformationList·count="1"> |
| | 374225 | ········<SummaryInformation·id="-1"·lang="nl"> |
| | 374226 | ··········<TextSectionList·count="0"> |
| | 374227 | ··········</TextSectionList> |
| | 374228 | ··········<TextAuto> |
| | 374229 | ············<Info·lang="nl">Deze·entiteit·werd·uitgesloten·van·de·nomenclatuur·van·zeldzame·ziekten·van·Orphanet·en·verplaatst·naar··Syndroom·van·Waardenburg·type·2</Info> |
| | 374230 | ··········</TextAuto> |
| | 374231 | ········</SummaryInformation> |
| 374287 | ······</SummaryInformationList> | 374232 | ······</SummaryInformationList> |
| 374288 | ····</Disorder> | 374233 | ····</Disorder> |
| 374289 | ····<Disorder·id="22142"> | 374234 | ····<Disorder·id="22142"> |
| 374290 | ······<OrphaCode>353356</OrphaCode> | 374235 | ······<OrphaCode>353356</OrphaCode> |
| 374291 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=353356</ExpertLink> | 374236 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=353356</ExpertLink> |
| 374292 | ······<Name·lang="nl">Vasoproliferatieve·tumor·van·de·retina</Name> | 374237 | ······<Name·lang="nl">Vasoproliferatieve·tumor·van·retina</Name> |
| 374293 | ······<DisorderFlagList·count="1"> | 374238 | ······<DisorderFlagList·count="1"> |
| 374294 | ········<DisorderFlag·id="475"> | 374239 | ········<DisorderFlag·id="475"> |
| 374295 | ··········<Value>1</Value> | 374240 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 374299 | ······<SynonymList·count="4"> | 374244 | ······<SynonymList·count="4"> |
| 374300 | ········<Synonym·lang="nl">Retinale·vasoproliferatieve·tumor</Synonym> | 374245 | ········<Synonym·lang="nl">Retinale·vasoproliferatieve·tumor</Synonym> |
| 374301 | ········<Synonym·lang="nl">VPTR</Synonym> | 374246 | ········<Synonym·lang="nl">VPTR</Synonym> |
| 374302 | ········<Synonym·lang="nl">Vasoproliferatieve·tumor·van·de·oculaire·fundus</Synonym> | 374247 | ········<Synonym·lang="nl">Vasoproliferatieve·tumor·van·netvlies</Synonym> |
| 374303 | ········<Synonym·lang="nl">Vasoproliferatieve·tumor·van·het·netvlies</Synonym> | 374248 | ········<Synonym·lang="nl">Vasoproliferatieve·tumor·van·oogfundus</Synonym> |
| 374304 | ······</SynonymList> | 374249 | ······</SynonymList> |
| 374305 | ······<DisorderType·id="21394"> | 374250 | ······<DisorderType·id="21394"> |
| 374306 | ········<Name·lang="nl">Ziekte</Name> | 374251 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 376904 | ····<Disorder·id="20900"> | 376849 | ····<Disorder·id="20900"> |
| 376905 | ······<OrphaCode>293987</OrphaCode> | 376850 | ······<OrphaCode>293987</OrphaCode> |
| 376906 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=293987</ExpertLink> | 376851 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=293987</ExpertLink> |
| 376907 | ······<Name·lang="nl">Snel·aanvangende·obesitas·in·de·kindertijd·-·hypothalamische·disfunctie·-·hypoventilatie·-·autonome·disregulatie-syndroom</Name> | 376852 | ······<Name·lang="nl">Snel·aanvangende·obesitas·in·de·kindertijd·-·disfunctie·van·hypothalamus·-·hypoventilatie·-·autonome·disregulatie-syndroom</Name> |
| 376908 | ······<DisorderFlagList·count="1"> | 376853 | ······<DisorderFlagList·count="1"> |
| 376909 | ········<DisorderFlag·id="475"> | 376854 | ········<DisorderFlag·id="475"> |
| 376910 | ··········<Value>1</Value> | 376855 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 376914 | ······<SynonymList·count="3"> | 376859 | ······<SynonymList·count="3"> |
| 376915 | ········<Synonym·lang="nl">ROHHAD</Synonym> | 376860 | ········<Synonym·lang="nl">ROHHAD</Synonym> |
| 376916 | ········<Synonym·lang="nl">ROHHADNET</Synonym> | 376861 | ········<Synonym·lang="nl">ROHHADNET</Synonym> |
| 376917 | ········<Synonym·lang="nl">Snel·aanvangende·obesitas·in·de·kindertijd·-·hypothalamische·disfunctie·-·hypoventilatie·-·autonome·disregulatie·-·neurale·tumoren-syndroom</Synonym> | 376862 | ········<Synonym·lang="nl">Snel·aanvangende·obesitas·in·de·kindertijd·-·disfunctie·van·hypothalamus·-·hypoventilatie·-·autonome·disregulatie·-·neurale·tumoren-syndroom</Synonym> |
| 376918 | ······</SynonymList> | 376863 | ······</SynonymList> |
| 376919 | ······<DisorderType·id="21394"> | 376864 | ······<DisorderType·id="21394"> |
| 376920 | ········<Name·lang="nl">Ziekte</Name> | 376865 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 377230 | ····<Disorder·id="20898"> | 377175 | ····<Disorder·id="20898"> |
| 377231 | ······<OrphaCode>293978</OrphaCode> | 377176 | ······<OrphaCode>293978</OrphaCode> |
| 377232 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=293978</ExpertLink> | 377177 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=293978</ExpertLink> |
| 377233 | ······<Name·lang="nl">Deficiëntie·van·de·voorste·hypofysefunctie·-·variabele·immuundeficiëntie-syndroom</Name> | 377178 | ······<Name·lang="nl">Disfunctie·van·adenohypofyse·-·variabele·immuundeficiëntie-syndroom</Name> |
| 377234 | ······<DisorderFlagList·count="1"> | 377179 | ······<DisorderFlagList·count="1"> |
| 377235 | ········<DisorderFlag·id="475"> | 377180 | ········<DisorderFlag·id="475"> |
| 377236 | ··········<Value>1</Value> | 377181 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 377338 | ····<Disorder·id="20894"> | 377283 | ····<Disorder·id="20894"> |
| 377339 | ······<OrphaCode>293955</OrphaCode> | 377284 | ······<OrphaCode>293955</OrphaCode> |
| 377340 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=293955</ExpertLink> | 377285 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=293955</ExpertLink> |
| 377341 | ······<Name·lang="nl">Encefalopathie·in·de·kindertijd·door·thiaminepyrofosfokinasedeficiëntie</Name> | 377286 | ······<Name·lang="nl">Encefalopathie·in·de·kindertijd·door·deficiëntie·van·thiaminepyrofosfokinase</Name> |
| 377342 | ······<DisorderFlagList·count="1"> | 377287 | ······<DisorderFlagList·count="1"> |
| 377343 | ········<DisorderFlag·id="475"> | 377288 | ········<DisorderFlag·id="475"> |
| 377344 | ··········<Value>1</Value> | 377289 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 382120 | ····<Disorder·id="20932"> | 382065 | ····<Disorder·id="20932"> |
| 382121 | ······<OrphaCode>294965</OrphaCode> | 382066 | ······<OrphaCode>294965</OrphaCode> |
| 382122 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=294965</ExpertLink> | 382067 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=294965</ExpertLink> |
| 382123 | ······<Name·lang="nl">Letaal·congenitaal·contractuursyndroom</Name> | 382068 | ······<Name·lang="nl">Letale·congenitale·contracturen-syndroom</Name> |
| 382124 | ······<DisorderFlagList·count="1"> | 382069 | ······<DisorderFlagList·count="1"> |
| 382125 | ········<DisorderFlag·id="475"> | 382070 | ········<DisorderFlag·id="475"> |
| 382126 | ··········<Value>1</Value> | 382071 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 383726 | ········<Synonym·lang="nl">MPAN</Synonym> | 383671 | ········<Synonym·lang="nl">MPAN</Synonym> |
| 383727 | ········<Synonym·lang="nl">NBIA·door·C19orf12-mutatie</Synonym> | 383672 | ········<Synonym·lang="nl">NBIA·door·C19orf12-mutatie</Synonym> |
| 383728 | ········<Synonym·lang="nl">NBIA4</Synonym> | 383673 | ········<Synonym·lang="nl">NBIA4</Synonym> |
| 383729 | ········<Synonym·lang="nl">Neurodegeneratie·met·ijzerstapeling·in·de·hersenen·door·C19orf12-mutatie</Synonym> | 383674 | ········<Synonym·lang="nl">Neurodegeneratie·met·ijzerstapeling·in·hersenen·door·C19orf12-mutatie</Synonym> |
| 383730 | ········<Synonym·lang="nl">Neurodegeneratie·met·ijzerstapeling·in·de·hersenen·type·4</Synonym> | 383675 | ········<Synonym·lang="nl">Neurodegeneratie·met·ijzerstapeling·in·hersenen·type·4</Synonym> |
| 383731 | ······</SynonymList> | 383676 | ······</SynonymList> |
| 383732 | ······<DisorderType·id="21394"> | 383677 | ······<DisorderType·id="21394"> |
| 383733 | ········<Name·lang="nl">Ziekte</Name> | 383678 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 384797 | ········<DisorderDisorderAssociation> | 384742 | ········<DisorderDisorderAssociation> |
| 384798 | ··········<TargetDisorder·id="11766"> | 384743 | ··········<TargetDisorder·id="11766"> |
| 384799 | ············<OrphaCode>86872</OrphaCode> | 384744 | ············<OrphaCode>86872</OrphaCode> |
| 384800 | ············<Name·lang="nl">T-cel-leukemie·met·grote·granulaire·lymfocyten</Name> | 384745 | ············<Name·lang="nl">Grootcellige·granulaire·lymfocytaire·T-celleukemie</Name> |
| 384801 | ··········</TargetDisorder> | 384746 | ··········</TargetDisorder> |
| 384802 | ··········<RootDisorder·id="5538"·cycle="true"/> | 384747 | ··········<RootDisorder·id="5538"·cycle="true"/> |
| 384803 | ··········<DisorderDisorderAssociationType·id="21471"> | 384748 | ··········<DisorderDisorderAssociationType·id="21471"> |
| ⋮ | ⋮ |
| 385075 | ····<Disorder·id="20839"> | 385020 | ····<Disorder·id="20839"> |
| 385076 | ······<OrphaCode>293168</OrphaCode> | 385021 | ······<OrphaCode>293168</OrphaCode> |
| 385077 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=293168</ExpertLink> | 385022 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=293168</ExpertLink> |
| 385078 | ······<Name·lang="nl">Toenemende·erfelijke·spastische·paralyse·met·aanvang·tijdens·de·vroege·kindertijd</Name> | 385023 | ······<Name·lang="nl">Opstijgende·erfelijke·spastische·paralyse·met·infantiele·aanvang</Name> |
| 385079 | ······<DisorderFlagList·count="1"> | 385024 | ······<DisorderFlagList·count="1"> |
| 385080 | ········<DisorderFlag·id="475"> | 385025 | ········<DisorderFlag·id="475"> |
| 385081 | ··········<Value>1</Value> | 385026 | ··········<Value>1</Value> |
| 385082 | ··········<Label></Label> | 385027 | ··········<Label></Label> |
| 385083 | ········</DisorderFlag> | 385028 | ········</DisorderFlag> |
| 385084 | ······</DisorderFlagList> | 385029 | ······</DisorderFlagList> |
| 385085 | ······<SynonymList·count="2"> | 385030 | ······<SynonymList·count="1"> |
| 385086 | ········<Synonym·lang="nl">IAHSP</Synonym> | 385031 | ········<Synonym·lang="nl">IAHSP</Synonym> |
| 385087 | ········<Synonym·lang="nl">Toenemende·erfelijke·spastische·verlamming·met·aanvang·tijdens·de·vroege·kindertijd</Synonym> | |
| 385088 | ······</SynonymList> | 385032 | ······</SynonymList> |
| 385089 | ······<DisorderType·id="21394"> | 385033 | ······<DisorderType·id="21394"> |
| 385090 | ········<Name·lang="nl">Ziekte</Name> | 385034 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 387343 | ····<Disorder·id="5517"> | 387287 | ····<Disorder·id="5517"> |
| 387344 | ······<OrphaCode>80</OrphaCode> | 387288 | ······<OrphaCode>80</OrphaCode> |
| 387345 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=80</ExpertLink> | 387289 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=80</ExpertLink> |
| 387346 | ······<Name·lang="nl">NIET·ZELDZAME·ZIEKTE·IN·EUROPA:·Antifosfolipidesyndroom</Name> | 387290 | ······<Name·lang="nl">NIET·ZELDZAME·ZIEKTE·IN·EUROPA:·Antifosfolipidensyndroom</Name> |
| 387347 | ······<DisorderFlagList·count="3"> | 387291 | ······<DisorderFlagList·count="3"> |
| 387348 | ········<DisorderFlag·id="495"> | 387292 | ········<DisorderFlag·id="495"> |
| 387349 | ··········<Value>8192</Value> | 387293 | ··········<Value>8192</Value> |
| ⋮ | ⋮ |
| 387359 | ········</DisorderFlag> | 387303 | ········</DisorderFlag> |
| 387360 | ······</DisorderFlagList> | 387304 | ······</DisorderFlagList> |
| 387361 | ······<SynonymList·count="3"> | 387305 | ······<SynonymList·count="3"> |
| 387362 | ········<Synonym·lang="nl">Antifosfolipide·antilichaam-syndroom</Synonym> | 387306 | ········<Synonym·lang="nl">Antifosfolipide-antilichaamsyndroom</Synonym> |
| 387363 | ········<Synonym·lang="nl">Familiale·lupus·anticoagulans</Synonym> | 387307 | ········<Synonym·lang="nl">Familiale·lupus·anticoagulans</Synonym> |
| 387364 | ········<Synonym·lang="nl">Syndroom·van·Hughes</Synonym> | 387308 | ········<Synonym·lang="nl">Syndroom·van·Hughes</Synonym> |
| 387365 | ······</SynonymList> | 387309 | ······</SynonymList> |
| ⋮ | ⋮ |
| 388076 | ······</ExternalReferenceList> | 388020 | ······</ExternalReferenceList> |
| 388077 | ······<DisorderDisorderAssociationList·count="0"> | 388021 | ······<DisorderDisorderAssociationList·count="0"> |
| 388078 | ······</DisorderDisorderAssociationList> | 388022 | ······</DisorderDisorderAssociationList> |
| 388079 | ······<SummaryInformationList·count="1"> | 388023 | ······<SummaryInformationList·count="0"> |
| 388080 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 388081 | ··········<TextSectionList·count="0"> | |
| 388082 | ··········</TextSectionList> | |
| 388083 | ··········<TextAuto> | |
| 388084 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 388085 | ··········</TextAuto> | |
| 388086 | ········</SummaryInformation> | |
| 388087 | ······</SummaryInformationList> | 388024 | ······</SummaryInformationList> |
| 388088 | ····</Disorder> | 388025 | ····</Disorder> |
| 388089 | ····<Disorder·id="20629"> | 388026 | ····<Disorder·id="20629"> |
| ⋮ | ⋮ |
| 390698 | ······<DisorderDisorderAssociationList·count="0"> | 390635 | ······<DisorderDisorderAssociationList·count="0"> |
| 390699 | ······</DisorderDisorderAssociationList> | 390636 | ······</DisorderDisorderAssociationList> |
| 390700 | ······<SummaryInformationList·count="1"> | 390637 | ······<SummaryInformationList·count="1"> |
| 390701 | ········<SummaryInformation·id="-1"·lang="nl"> | 390638 | ········<SummaryInformation·id="129118"·lang="nl"> |
| 390702 | ··········<TextSectionList·count="0"> | 390639 | ··········<TextSectionList·count="1"> |
| | 390640 | ············<TextSection·id="167971"·lang="nl"> |
| | 390641 | ··············<TextSectionType·id="16907"> |
| | 390642 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 390643 | ··············</TextSectionType> |
| | 390644 | ··············<Contents>Een·groep·van·zeldzame·erfelijke·niet-syndromale·ichtyosen,·gekarakteriseerd·door·mutaties·in·genen·voor·keratines.·Mutaties·in·<i>KRT1</i>·en·<i>KRT10</i>·veroorzaken·de·ergste·gevallen·van·epidermolytische·ichthyosis·(EI),·alsook·congenitale·reticulaire·ichthyosiforme·erytrodermie·(CRIE).·EI·manifesteert·zich·bij·de·geboorte·met·gegeneraliseerde·blaarvorming,·die·later·transformeert·tot·hyperkeratose.·Ernstige·palmoplantaire·betrokkenheid·wijst·op·de·aanwezigheid·van·een·mutatie·in·<i>KRT1</i>.·CRIE-patiënten·vertonen·bij·de·geboorte·erytrodermie·en·desquamatie,·vaak·met·een·collodiummembraan,·en·ontwikkelen·geleidelijk·confetti-achtige·heldere·gebieden·met·normale·huid.·Mutaties·in·<i>KRT2</i>·zijn·geassocieerd·met·superficiële·epidermolytische·ichthyosis·(SEI),·die·klinisch·gelijkaardig·is·aan·EI,·maar·doorgaans·milder·en·meer·gelokaliseerd.</Contents> |
| | 390645 | ············</TextSection> |
| 390703 | ··········</TextSectionList> | 390646 | ··········</TextSectionList> |
| 390704 | ··········<TextAuto> | |
| 390705 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 390706 | ··········</TextAuto> | |
| 390707 | ········</SummaryInformation> | 390647 | ········</SummaryInformation> |
| 390708 | ······</SummaryInformationList> | 390648 | ······</SummaryInformationList> |
| 390709 | ····</Disorder> | 390649 | ····</Disorder> |
| ⋮ | ⋮ |
| 391172 | ····<Disorder·id="20530"> | 391112 | ····<Disorder·id="20530"> |
| 391173 | ······<OrphaCode>281139</OrphaCode> | 391113 | ······<OrphaCode>281139</OrphaCode> |
| 391174 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=281139</ExpertLink> | 391114 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=281139</ExpertLink> |
| 391175 | ······<Name·lang="nl">Ringvormige·epidermolytische·ichthyosis</Name> | 391115 | ······<Name·lang="nl">Annulaire·epidermolytische·ichthyosis</Name> |
| 391176 | ······<DisorderFlagList·count="1"> | 391116 | ······<DisorderFlagList·count="1"> |
| 391177 | ········<DisorderFlag·id="475"> | 391117 | ········<DisorderFlag·id="475"> |
| 391178 | ··········<Value>1</Value> | 391118 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 391181 | ······</DisorderFlagList> | 391121 | ······</DisorderFlagList> |
| 391182 | ······<SynonymList·count="2"> | 391122 | ······<SynonymList·count="2"> |
| 391183 | ········<Synonym·lang="nl">AEI</Synonym> | 391123 | ········<Synonym·lang="nl">AEI</Synonym> |
| 391184 | ········<Synonym·lang="nl">Annulaire·epidermolytische·ichthyosis</Synonym> | 391124 | ········<Synonym·lang="nl">Ringvormige·epidermolytische·ichthyosis</Synonym> |
| 391185 | ······</SynonymList> | 391125 | ······</SynonymList> |
| 391186 | ······<DisorderType·id="21394"> | 391126 | ······<DisorderType·id="21394"> |
| 391187 | ········<Name·lang="nl">Ziekte</Name> | 391127 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 394041 | ····<Disorder·id="20603"> | 393981 | ····<Disorder·id="20603"> |
| 394042 | ······<OrphaCode>284388</OrphaCode> | 393982 | ······<OrphaCode>284388</OrphaCode> |
| 394043 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=284388</ExpertLink> | 393983 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=284388</ExpertLink> |
| 394044 | ······<Name·lang="nl">Reversibele·cerebrale·vasoconstrictiesyndroom</Name> | 393984 | ······<Name·lang="nl">Reversibele·cerebrale·vasoconstrictie-syndroom</Name> |
| 394045 | ······<DisorderFlagList·count="1"> | 393985 | ······<DisorderFlagList·count="1"> |
| 394046 | ········<DisorderFlag·id="475"> | 393986 | ········<DisorderFlag·id="475"> |
| 394047 | ··········<Value>1</Value> | 393987 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 396363 | ········</DisorderFlag> | 396303 | ········</DisorderFlag> |
| 396364 | ······</DisorderFlagList> | 396304 | ······</DisorderFlagList> |
| 396365 | ······<SynonymList·count="2"> | 396305 | ······<SynonymList·count="2"> |
| 396366 | ········<Synonym·lang="nl">Familiale·polypose·van·fundusklieren·met·maagkanker</Synonym> | 396306 | ········<Synonym·lang="nl">Familiale·polyposis·van·fundusklieren·met·maagkanker</Synonym> |
| 396367 | ········<Synonym·lang="nl">GAPPS</Synonym> | 396307 | ········<Synonym·lang="nl">GAPPS</Synonym> |
| 396368 | ······</SynonymList> | 396308 | ······</SynonymList> |
| 396369 | ······<DisorderType·id="21394"> | 396309 | ······<DisorderType·id="21394"> |
| ⋮ | ⋮ |
| 397599 | ····<Disorder·id="21496"> | 397539 | ····<Disorder·id="21496"> |
| 397600 | ······<OrphaCode>314572</OrphaCode> | 397540 | ······<OrphaCode>314572</OrphaCode> |
| 397601 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=314572</ExpertLink> | 397541 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=314572</ExpertLink> |
| 397602 | ······<Name·lang="nl">Autosomaal·recessief·leuko-encefalopathie·-·ischemische·beroerte·-·retinitis·pigmentosa-syndroom</Name> | 397542 | ······<Name·lang="nl">Autosomaal·recessieve·leuko-encefalopathie·-·ischemische·beroerte·-·retinitis·pigmentosa-syndroom</Name> |
| 397603 | ······<DisorderFlagList·count="1"> | 397543 | ······<DisorderFlagList·count="1"> |
| 397604 | ········<DisorderFlag·id="475"> | 397544 | ········<DisorderFlag·id="475"> |
| 397605 | ··········<Value>1</Value> | 397545 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 397705 | ····<Disorder·id="21498"> | 397645 | ····<Disorder·id="21498"> |
| 397706 | ······<OrphaCode>314585</OrphaCode> | 397646 | ······<OrphaCode>314585</OrphaCode> |
| 397707 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=314585</ExpertLink> | 397647 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=314585</ExpertLink> |
| 397708 | ······<Name·lang="nl">15q·overgroeisyndroom</Name> | 397648 | ······<Name·lang="nl">15q-overgroeisyndroom</Name> |
| 397709 | ······<DisorderFlagList·count="1"> | 397649 | ······<DisorderFlagList·count="1"> |
| 397710 | ········<DisorderFlag·id="475"> | 397650 | ········<DisorderFlag·id="475"> |
| 397711 | ··········<Value>1</Value> | 397651 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 398510 | ··········<Label></Label> | 398450 | ··········<Label></Label> |
| 398511 | ········</DisorderFlag> | 398451 | ········</DisorderFlag> |
| 398512 | ······</DisorderFlagList> | 398452 | ······</DisorderFlagList> |
| 398513 | ······<SynonymList·count="1"> | 398453 | ······<SynonymList·count="2"> |
| 398514 | ········<Synonym·lang="nl">ADCA-DN-syndroom</Synonym> | 398454 | ········<Synonym·lang="nl">ADCA-DN-syndroom</Synonym> |
| | 398455 | ········<Synonym·lang="nl">Autosomaal·dominante·cerebellaire·ataxie·-·gehoorverlies·-·narcolepsie-syndroom</Synonym> |
| 398515 | ······</SynonymList> | 398456 | ······</SynonymList> |
| 398516 | ······<DisorderType·id="21394"> | 398457 | ······<DisorderType·id="21394"> |
| 398517 | ········<Name·lang="nl">Ziekte</Name> | 398458 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 398975 | ····<Disorder·id="21475"> | 398916 | ····<Disorder·id="21475"> |
| 398976 | ······<OrphaCode>314051</OrphaCode> | 398917 | ······<OrphaCode>314051</OrphaCode> |
| 398977 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=314051</ExpertLink> | 398918 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=314051</ExpertLink> |
| 398978 | ······<Name·lang="nl">Leuko-encefalopathie·-·thalamus-·en·hersenstamanomalieën·-·hoog·lactaatgehalte-syndroom</Name> | 398919 | ······<Name·lang="nl">Leuko-encefalopathie·-·anomalieën·van·thalamus·en·hersenstam·-·hoog·lactaatgehalte-syndroom</Name> |
| 398979 | ······<DisorderFlagList·count="1"> | 398920 | ······<DisorderFlagList·count="1"> |
| 398980 | ········<DisorderFlag·id="475"> | 398921 | ········<DisorderFlag·id="475"> |
| 398981 | ··········<Value>1</Value> | 398922 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 400780 | ····<Disorder·id="21310"> | 400721 | ····<Disorder·id="21310"> |
| 400781 | ······<OrphaCode>308410</OrphaCode> | 400722 | ······<OrphaCode>308410</OrphaCode> |
| 400782 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=308410</ExpertLink> | 400723 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=308410</ExpertLink> |
| 400783 | ······<Name·lang="nl">Autisme-epilepsiesyndroom·door·vertakte·keten-ketozuurdehydrogenasekinasedeficiëntie</Name> | 400724 | ······<Name·lang="nl">Autisme·-·epilepsie-syndroom·door·deficiëntie·van·vertakte·keten-ketozuurdehydrogenasekinase</Name> |
| 400784 | ······<DisorderFlagList·count="1"> | 400725 | ······<DisorderFlagList·count="1"> |
| 400785 | ········<DisorderFlag·id="475"> | 400726 | ········<DisorderFlag·id="475"> |
| 400786 | ··········<Value>1</Value> | 400727 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 402155 | ····<Disorder·id="21342"> | 402096 | ····<Disorder·id="21342"> |
| 402156 | ······<OrphaCode>309111</OrphaCode> | 402097 | ······<OrphaCode>309111</OrphaCode> |
| 402157 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=309111</ExpertLink> | 402098 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=309111</ExpertLink> |
| 402158 | ······<Name·lang="nl">Gecombineerde·pancreatische·lipase-colipasedeficiëntie</Name> | 402099 | ······<Name·lang="nl">Gecombineerde·deficiëntie·van·pancreatisch·lipase-colipase</Name> |
| 402159 | ······<DisorderFlagList·count="2"> | 402100 | ······<DisorderFlagList·count="2"> |
| 402160 | ········<DisorderFlag·id="460"> | 402101 | ········<DisorderFlag·id="460"> |
| 402161 | ··········<Value>512</Value> | 402102 | ··········<Value>512</Value> |
| ⋮ | ⋮ |
| 402333 | ····<Disorder·id="21341"> | 402274 | ····<Disorder·id="21341"> |
| 402334 | ······<OrphaCode>309108</OrphaCode> | 402275 | ······<OrphaCode>309108</OrphaCode> |
| 402335 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=309108</ExpertLink> | 402276 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=309108</ExpertLink> |
| 402336 | ······<Name·lang="nl">Pancreatische·colipasedeficiëntie</Name> | 402277 | ······<Name·lang="nl">Deficiëntie·van·pancreatisch·colipase</Name> |
| 402337 | ······<DisorderFlagList·count="2"> | 402278 | ······<DisorderFlagList·count="2"> |
| 402338 | ········<DisorderFlag·id="460"> | 402279 | ········<DisorderFlag·id="460"> |
| 402339 | ··········<Value>512</Value> | 402280 | ··········<Value>512</Value> |
| ⋮ | ⋮ |
| 402487 | ····<Disorder·id="21336"> | 402428 | ····<Disorder·id="21336"> |
| 402488 | ······<OrphaCode>309015</OrphaCode> | 402429 | ······<OrphaCode>309015</OrphaCode> |
| 402489 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=309015</ExpertLink> | 402430 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=309015</ExpertLink> |
| 402490 | ······<Name·lang="nl">Familiale·lipoproteïnelipasedeficiëntie</Name> | 402431 | ······<Name·lang="nl">Familiale·deficiëntie·van·lipoproteïnelipase</Name> |
| 402491 | ······<DisorderFlagList·count="1"> | 402432 | ······<DisorderFlagList·count="1"> |
| 402492 | ········<DisorderFlag·id="475"> | 402433 | ········<DisorderFlag·id="475"> |
| 402493 | ··········<Value>1</Value> | 402434 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 405040 | ········</DisorderFlag> | 404981 | ········</DisorderFlag> |
| 405041 | ······</DisorderFlagList> | 404982 | ······</DisorderFlagList> |
| 405042 | ······<SynonymList·count="1"> | 404983 | ······<SynonymList·count="1"> |
| 405043 | ········<Synonym·lang="nl">Hyperalalinemie</Synonym> | 404984 | ········<Synonym·lang="nl">Hyperalaninemie</Synonym> |
| 405044 | ······</SynonymList> | 404985 | ······</SynonymList> |
| 405045 | ······<DisorderType·id="21394"> | 404986 | ······<DisorderType·id="21394"> |
| 405046 | ········<Name·lang="nl">Ziekte</Name> | 404987 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 406031 | ····<Disorder·id="21130"> | 405972 | ····<Disorder·id="21130"> |
| 406032 | ······<OrphaCode>300557</OrphaCode> | 405973 | ······<OrphaCode>300557</OrphaCode> |
| 406033 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=300557</ExpertLink> | 405974 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=300557</ExpertLink> |
| 406034 | ······<Name·lang="nl">Carcinoom·van·de·ampul·van·Vater</Name> | 405975 | ······<Name·lang="nl">Carcinoom·van·ampul·van·Vater</Name> |
| 406035 | ······<DisorderFlagList·count="1"> | 405976 | ······<DisorderFlagList·count="1"> |
| 406036 | ········<DisorderFlag·id="475"> | 405977 | ········<DisorderFlag·id="475"> |
| 406037 | ··········<Value>1</Value> | 405978 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 406867 | ····<Disorder·id="21145"> | 406808 | ····<Disorder·id="21145"> |
| 406868 | ······<OrphaCode>300849</OrphaCode> | 406809 | ······<OrphaCode>300849</OrphaCode> |
| 406869 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=300849</ExpertLink> | 406810 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=300849</ExpertLink> |
| 406870 | ······<Name·lang="nl">Diffuus·grootcellig·B-cellymfoom·van·het·centrale·zenuwstelsel</Name> | 406811 | ······<Name·lang="nl">Diffuus·grootcellig·B-cellymfoom·van·centraal·zenuwstelsel</Name> |
| 406871 | ······<DisorderFlagList·count="1"> | 406812 | ······<DisorderFlagList·count="1"> |
| 406872 | ········<DisorderFlag·id="475"> | 406813 | ········<DisorderFlag·id="475"> |
| 406873 | ··········<Value>1</Value> | 406814 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 406875 | ········</DisorderFlag> | 406816 | ········</DisorderFlag> |
| 406876 | ······</DisorderFlagList> | 406817 | ······</DisorderFlagList> |
| 406877 | ······<SynonymList·count="1"> | 406818 | ······<SynonymList·count="1"> |
| 406878 | ········<Synonym·lang="nl">DLBCL·van·het·CZS</Synonym> | 406819 | ········<Synonym·lang="nl">DLBCL·van·CZS</Synonym> |
| 406879 | ······</SynonymList> | 406820 | ······</SynonymList> |
| 406880 | ······<DisorderType·id="21394"> | 406821 | ······<DisorderType·id="21394"> |
| 406881 | ········<Name·lang="nl">Ziekte</Name> | 406822 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 406933 | ······</ExternalReferenceList> | 406874 | ······</ExternalReferenceList> |
| 406934 | ······<DisorderDisorderAssociationList·count="0"> | 406875 | ······<DisorderDisorderAssociationList·count="0"> |
| 406935 | ······</DisorderDisorderAssociationList> | 406876 | ······</DisorderDisorderAssociationList> |
| 406936 | ······<SummaryInformationList·count="1"> | 406877 | ······<SummaryInformationList·count="0"> |
| 406937 | ········<SummaryInformation·id="-1"·lang="nl"> | |
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| 406946 | ····<Disorder·id="21147"> | 406880 | ····<Disorder·id="21147"> |
| ⋮ | ⋮ |
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| | 407120 | ········<Synonym·lang="nl">Diffuus·kleincellig·B-cellymfoom·van·rode·pulpa·van·milt</Synonym> |
| 407186 | ········<Synonym·lang="nl">SDRPL</Synonym> | 407121 | ········<Synonym·lang="nl">SDRPL</Synonym> |
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| 407190 | ········<Name·lang="nl">Ziekte</Name> | 407125 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
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| ⋮ | ⋮ |
| 407721 | ····<Disorder·id="21153"> | 407649 | ····<Disorder·id="21153"> |
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| 407724 | ······<Name·lang="nl">Marginale·zone-lymfoom</Name> | 407652 | ······<Name·lang="nl">Marginale·zone·lymfoom</Name> |
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| 407726 | ········<DisorderFlag·id="475"> | 407654 | ········<DisorderFlag·id="475"> |
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| ⋮ | ⋮ |
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| 407755 | ········<SummaryInformation·id="-1"·lang="nl"> | |
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| 407764 | ····<Disorder·id="21184"> | 407685 | ····<Disorder·id="21184"> |
| ⋮ | ⋮ |
| 408708 | ····<Disorder·id="21218"> | 408629 | ····<Disorder·id="21218"> |
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| 408711 | ······<Name·lang="nl">PTEN-hamartoomtumorsyndroom</Name> | 408632 | ······<Name·lang="nl">PTEN-hamartoom-tumorsyndroom</Name> |
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| ⋮ | ⋮ |
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| 409146 | ········<SummaryInformation·id="-1"·lang="nl"> | |
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| 409155 | ····<Disorder·id="21243"> | 409069 | ····<Disorder·id="21243"> |
| ⋮ | ⋮ |
| 414560 | ······</ExternalReferenceList> | 414474 | ······</ExternalReferenceList> |
| 414561 | ······<DisorderDisorderAssociationList·count="0"> | 414475 | ······<DisorderDisorderAssociationList·count="0"> |
| 414562 | ······</DisorderDisorderAssociationList> | 414476 | ······</DisorderDisorderAssociationList> |
| 414563 | ······<SummaryInformationList·count="0"> | 414477 | ······<SummaryInformationList·count="1"> |
| | 414478 | ········<SummaryInformation·id="129157"·lang="nl"> |
| | 414479 | ··········<TextSectionList·count="1"> |
| | 414480 | ············<TextSection·id="168028"·lang="nl"> |
| | 414481 | ··············<TextSectionType·id="16907"> |
| | 414482 | ················<Name·lang="nl">Definitie·ziekte</Name> |
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| | 414484 | ··············<Contents>Een·zeldzaam,·genetisch·syndroom·met·intellectuele·achterstand,·gekarakteriseerd·door·ernstige·algehele·ontwikkelingsachterstand·met·intellectuele·achterstand,·microcefalie,·groeiretardatie,·oogdefecten·zoals·congenitaal·cataract,·en·naevus·flammeus·simplex·op·het·voorhoofd.·Urogenitale·afwijkingen·en·hart-·en·skeletanomalieën,·alsook·insulten·zijn·aanwezig·bij·de·meeste·patiënten.·Dysmorfe·craniofaciale·kenmerken·zijn·onder·meer·schaars·haar,·schuin·naar·beneden·hellende·ooglidspleten,·hypertelorisme,·brede·en·overhangende·neuspunt,·en·kort·filtrum.</Contents> |
| | 414485 | ············</TextSection> |
| | 414486 | ··········</TextSectionList> |
| | 414487 | ········</SummaryInformation> |
| 414564 | ······</SummaryInformationList> | 414488 | ······</SummaryInformationList> |
| 414565 | ····</Disorder> | 414489 | ····</Disorder> |
| 414566 | ····<Disorder·id="24049"> | 414490 | ····<Disorder·id="24049"> |
| ⋮ | ⋮ |
| 414646 | ······</ExternalReferenceList> | 414570 | ······</ExternalReferenceList> |
| 414647 | ······<DisorderDisorderAssociationList·count="0"> | 414571 | ······<DisorderDisorderAssociationList·count="0"> |
| 414648 | ······</DisorderDisorderAssociationList> | 414572 | ······</DisorderDisorderAssociationList> |
| 414649 | ······<SummaryInformationList·count="0"> | 414573 | ······<SummaryInformationList·count="1"> |
| | 414574 | ········<SummaryInformation·id="129123"·lang="nl"> |
| | 414575 | ··········<TextSectionList·count="1"> |
| | 414576 | ············<TextSection·id="167976"·lang="nl"> |
| | 414577 | ··············<TextSectionType·id="16907"> |
| | 414578 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 414579 | ··············</TextSectionType> |
| | 414580 | ··············<Contents>Een·zeldzame·neoplastische·aandoening,·gekarakteriseerd·door·optreden·van·atypische·en·agressieve·type·1·neuro-endocriene·tumoren·(NET)·van·maag·in·de·vroege·volwassenheid.·De·tumoren·vertonen·vaak·infiltratie·van·lymfeklieren,·wat·volledige·gastrectomie·vereist.·Synchroon·adenocarcinoom·van·maag·werd·ook·reeds·gerapporteerd.·Patiënten·vertonen·hoge·concentraties·van·gastrine·in·serum·en·anemie·door·ijzerdeficiëntie·(eerder·dan·megaloblastische·anemie,·dat·een·typisch·kenmerk·is·van·patiënten·met·sporadische·type·1·NET·van·maag,·waar·de·tumor·vaak·ontstaat·in·de·context·van·auto-immune·atrofische·gastritis).</Contents> |
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| | 414582 | ··········</TextSectionList> |
| | 414583 | ········</SummaryInformation> |
| 414650 | ······</SummaryInformationList> | 414584 | ······</SummaryInformationList> |
| 414651 | ····</Disorder> | 414585 | ····</Disorder> |
| 414652 | ····<Disorder·id="24050"> | 414586 | ····<Disorder·id="24050"> |
| ⋮ | ⋮ |
| 414926 | ··········</DisorderDisorderAssociationType> | 414860 | ··········</DisorderDisorderAssociationType> |
| 414927 | ········</DisorderDisorderAssociation> | 414861 | ········</DisorderDisorderAssociation> |
| 414928 | ······</DisorderDisorderAssociationList> | 414862 | ······</DisorderDisorderAssociationList> |
| 414929 | ······<SummaryInformationList·count="1"> | 414863 | ······<SummaryInformationList·count="0"> |
| 414930 | ········<SummaryInformation·id="-1"·lang="nl"> | |
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| 414932 | ··········</TextSectionList> | |
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| 414934 | ············<Info·lang="nl">Deze·ziekte·is·niet·zeldzaam·in·Europa.·De·ziekte·maakt·geen·deel·uit·van·de·nomenclatuur·van·zeldzame·ziekten·van·Orphanet.</Info> | |
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| 414938 | ····</Disorder> | 414865 | ····</Disorder> |
| 414939 | ····<Disorder·id="24019"> | 414866 | ····<Disorder·id="24019"> |
| ⋮ | ⋮ |
| 415022 | ······</ExternalReferenceList> | 414949 | ······</ExternalReferenceList> |
| 415023 | ······<DisorderDisorderAssociationList·count="0"> | 414950 | ······<DisorderDisorderAssociationList·count="0"> |
| 415024 | ······</DisorderDisorderAssociationList> | 414951 | ······</DisorderDisorderAssociationList> |
| 415025 | ······<SummaryInformationList·count="0"> | 414952 | ······<SummaryInformationList·count="1"> |
| | 414953 | ········<SummaryInformation·id="129151"·lang="nl"> |
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| | 414958 | ··············</TextSectionType> |
| | 414959 | ··············<Contents>Een·zeldzame·anomalie·van·lymfatisch·systeem,·gekarakteriseerd·door·multifocale,·congenitale·en·progressieve·vasculaire·laesies·van·huid,·maag-darmstelsel,·en·soms·andere·anatomische·lichaamsstructuren,·die·potentieel·levensbedreigende·trombocytopenische·coagulopathie·veroorzaken.·Macroscopisch·lijken·de·laesies·op·ronde·tot·ovale,·rood-bruine·plaques·met·een·diameter·van·enkele·centimeters.·Histopathologisch·bestaan·ze·uit·gedilateerde,·dunwandige·bloedvaten·met·variabele·endotheliale·hyperplasie,·zijn·ze·positief·voor·merkers·van·lymfatische·endotheelcellen,·en·lijken·ze·op·goedaardig·lymfangio-endothelioom.</Contents> |
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| 415027 | ····</Disorder> | 414964 | ····</Disorder> |
| 415028 | ····<Disorder·id="24017"> | 414965 | ····<Disorder·id="24017"> |
| ⋮ | ⋮ |
| 415207 | ····<Disorder·id="24021"> | 415144 | ····<Disorder·id="24021"> |
| 415208 | ······<OrphaCode>464343</OrphaCode> | 415145 | ······<OrphaCode>464343</OrphaCode> |
| 415209 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=464343</ExpertLink> | 415146 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=464343</ExpertLink> |
| 415210 | ······<Name·lang="nl">Catastrofaal·antifosfolipidesyndroom</Name> | 415147 | ······<Name·lang="nl">Catastrofaal·antifosfolipidensyndroom</Name> |
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| ⋮ | ⋮ |
| 415565 | ······</ExternalReferenceList> | 415502 | ······</ExternalReferenceList> |
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| 415567 | ······</DisorderDisorderAssociationList> | 415504 | ······</DisorderDisorderAssociationList> |
| 415568 | ······<SummaryInformationList·count="1"> | 415505 | ······<SummaryInformationList·count="0"> |
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| 415577 | ····</Disorder> | 415507 | ····</Disorder> |
| 415578 | ····<Disorder·id="24028"> | 415508 | ····<Disorder·id="24028"> |
| ⋮ | ⋮ |
| 416018 | ····<Disorder·id="23679"> | 415948 | ····<Disorder·id="23679"> |
| 416019 | ······<OrphaCode>456333</OrphaCode> | 415949 | ······<OrphaCode>456333</OrphaCode> |
| 416020 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=456333</ExpertLink> | 415950 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=456333</ExpertLink> |
| 416021 | ······<Name·lang="nl">Erfelijke·neuro-endocriene·tumor·van·de·dunne·darm</Name> | 415951 | ······<Name·lang="nl">Erfelijke·neuro-endocriene·tumor·van·dunne·darm</Name> |
| 416022 | ······<DisorderFlagList·count="1"> | 415952 | ······<DisorderFlagList·count="1"> |
| 416023 | ········<DisorderFlag·id="475"> | 415953 | ········<DisorderFlag·id="475"> |
| 416024 | ··········<Value>1</Value> | 415954 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 416050 | ······</ExternalReferenceList> | 415980 | ······</ExternalReferenceList> |
| 416051 | ······<DisorderDisorderAssociationList·count="0"> | 415981 | ······<DisorderDisorderAssociationList·count="0"> |
| 416052 | ······</DisorderDisorderAssociationList> | 415982 | ······</DisorderDisorderAssociationList> |
| 416053 | ······<SummaryInformationList·count="0"> | 415983 | ······<SummaryInformationList·count="1"> |
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| | 415990 | ··············<Contents>Een·zeldzaam·hereditair·kankerpredispositiesyndroom,·gekarakteriseerd·door·voorkomen·van·multipele·synchrone·primaire·carcinoïden·van·dunne·darm.·De·klinische·presentatie·valt·niet·te·onderscheiden·van·sporadische·carcinoïden,·en·omvat·onder·meer·abdominale·pijn,·blozen·en·diarree,·en·manifesteert·zich·vaak·pas·na·een·lange·asymptomatische·periode.·De·meeste·patiënten·vertonen·laaggradige·tumoren.·Voorkomen·van·pulmonaal·carcinoïd·werd·ook·reeds·gerapporteerd.</Contents> |
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| | 415992 | ··········</TextSectionList> |
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| 416054 | ······</SummaryInformationList> | 415994 | ······</SummaryInformationList> |
| 416055 | ····</Disorder> | 415995 | ····</Disorder> |
| 416056 | ····<Disorder·id="23676"> | 415996 | ····<Disorder·id="23676"> |
| ⋮ | ⋮ |
| 417208 | ······</ExternalReferenceList> | 417148 | ······</ExternalReferenceList> |
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| 417210 | ······</DisorderDisorderAssociationList> | 417150 | ······</DisorderDisorderAssociationList> |
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| | 417152 | ········<SummaryInformation·id="128993"·lang="nl"> |
| | 417153 | ··········<TextSectionList·count="1"> |
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| | 417158 | ··············<Contents>Een·zeldzame·verworven·aandoening·van·huid,·gekarakteriseerd·door·goedaardige·proliferatie·van·rijpe·plasmacellen·en·een·typische·triade·van·huidlaesies,·polyklonale·hypergammaglobulinemie,·en·oppervlakkige·lymfadenopathie,·zonder·een·aanwijsbare·onderliggende·oorzaak.·De·huidlaesies·bestaan·uit·meerdere·ronde·tot·ovale,·rode·tot·donkerbruine·maculae,·papels·en·plaques·die·doorgaans·worden·aangetroffen·op·de·romp,·maar·ook·het·gelaat,·de·hals·en·de·oksels.</Contents> |
| | 417159 | ············</TextSection> |
| | 417160 | ··········</TextSectionList> |
| | 417161 | ········</SummaryInformation> |
| 417212 | ······</SummaryInformationList> | 417162 | ······</SummaryInformationList> |
| 417213 | ····</Disorder> | 417163 | ····</Disorder> |
| 417214 | ····<Disorder·id="23642"> | 417164 | ····<Disorder·id="23642"> |
| ⋮ | ⋮ |
| 417257 | ······</ExternalReferenceList> | 417207 | ······</ExternalReferenceList> |
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| 417259 | ······</DisorderDisorderAssociationList> | 417209 | ······</DisorderDisorderAssociationList> |
| 417260 | ······<SummaryInformationList·count="0"> | 417210 | ······<SummaryInformationList·count="1"> |
| | 417211 | ········<SummaryInformation·id="128994"·lang="nl"> |
| | 417212 | ··········<TextSectionList·count="1"> |
| | 417213 | ············<TextSection·id="167918"·lang="nl"> |
| | 417214 | ··············<TextSectionType·id="16907"> |
| | 417215 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 417216 | ··············</TextSectionType> |
| | 417217 | ··············<Contents>Een·zeldzame·verworven·aandoening·van·huid,·gekarakteriseerd·door·een·goedaardig,·etiologisch·variabel·lymfoproliferatief·aanhangsel·van·de·huid·dat·klinisch·en/of·histologisch·lijkt·op·cutaan·lymfoom,·maar·niet·voldoet·aan·criteria·voor·de·diagnose·van·een·specifieke·ziekte.·Afhankelijk·van·het·overheersende·celtype·in·het·infiltraat·kunnen·pseudo-T-cellymfoom·en·pseudo-B-cellymfoom·onderscheiden·worden.</Contents> |
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| | 417219 | ··········</TextSectionList> |
| | 417220 | ········</SummaryInformation> |
| 417261 | ······</SummaryInformationList> | 417221 | ······</SummaryInformationList> |
| 417262 | ····</Disorder> | 417222 | ····</Disorder> |
| 417263 | ····<Disorder·id="23643"> | 417223 | ····<Disorder·id="23643"> |
| ⋮ | ⋮ |
| 419495 | ······</ExternalReferenceList> | 419455 | ······</ExternalReferenceList> |
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| 419498 | ······<SummaryInformationList·count="1"> | 419458 | ······<SummaryInformationList·count="0"> |
| 419499 | ········<SummaryInformation·id="-1"·lang="nl"> | |
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| 419507 | ····</Disorder> | 419460 | ····</Disorder> |
| 419508 | ····<Disorder·id="23763"> | 419461 | ····<Disorder·id="23763"> |
| ⋮ | ⋮ |
| 419673 | ······</ExternalReferenceList> | 419626 | ······</ExternalReferenceList> |
| 419674 | ······<DisorderDisorderAssociationList·count="0"> | 419627 | ······<DisorderDisorderAssociationList·count="0"> |
| 419675 | ······</DisorderDisorderAssociationList> | 419628 | ······</DisorderDisorderAssociationList> |
| 419676 | ······<SummaryInformationList·count="0"> | 419629 | ······<SummaryInformationList·count="1"> |
| | 419630 | ········<SummaryInformation·id="129115"·lang="nl"> |
| | 419631 | ··········<TextSectionList·count="1"> |
| | 419632 | ············<TextSection·id="167968"·lang="nl"> |
| | 419633 | ··············<TextSectionType·id="16907"> |
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| | 419636 | ··············<Contents>Een·zeldzame·spondylo-epifysaire·dysplasie,·gekarakteriseerd·door·progressieve·gewrichtscontracturen·met·premature·degeneratieve·gewrichtsaandoening,·vooral·van·knie-,·heup-·en·vingergewrichten.·Patiënten·hebben·een·normale·lichaamslengte·en·vertonen·loopstoornissen,·gewrichtspijn,·en·vergrote·gewrichten·met·beperking·van·gewrichtsbeweging·en·contracturen.·Radiologische·kenmerken·zijn·onder·meer·gegeneraliseerde·platyspondylie,·hypoplastische·darmbeenderen,·afvlakking·van·epifysen·met·verbreding·van·metafysen·van·pijpbeenderen,·en·brede·en·lange·femurhalzen·met·aanzienlijke·coxa·valga.·Histopathologisch·onderzoek·van·kraakbeen·toont·PAS-positieve·cytoplasmatische·inclusielichaampjes·in·chondrocyten.</Contents> |
| | 419637 | ············</TextSection> |
| | 419638 | ··········</TextSectionList> |
| | 419639 | ········</SummaryInformation> |
| 419677 | ······</SummaryInformationList> | 419640 | ······</SummaryInformationList> |
| 419678 | ····</Disorder> | 419641 | ····</Disorder> |
| 419679 | ····<Disorder·id="23771"> | 419642 | ····<Disorder·id="23771"> |
| ⋮ | ⋮ |
| 420615 | ····<Disorder·id="23716"> | 420578 | ····<Disorder·id="23716"> |
| 420616 | ······<OrphaCode>457252</OrphaCode> | 420579 | ······<OrphaCode>457252</OrphaCode> |
| 420617 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=457252</ExpertLink> | 420580 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=457252</ExpertLink> |
| 420618 | ······<Name·lang="nl">Oraal·plaveiselcelcarcinoom·van·de·tong</Name> | 420581 | ······<Name·lang="nl">Plaveiselcelcarcinoom·van·tong</Name> |
| 420619 | ······<DisorderFlagList·count="3"> | 420582 | ······<DisorderFlagList·count="3"> |
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| 420621 | ··········<Value>8192</Value> | 420584 | ··········<Value>8192</Value> |
| ⋮ | ⋮ |
| 420860 | ······</ExternalReferenceList> | 420823 | ······</ExternalReferenceList> |
| 420861 | ······<DisorderDisorderAssociationList·count="0"> | 420824 | ······<DisorderDisorderAssociationList·count="0"> |
| 420862 | ······</DisorderDisorderAssociationList> | 420825 | ······</DisorderDisorderAssociationList> |
| 420863 | ······<SummaryInformationList·count="0"> | 420826 | ······<SummaryInformationList·count="1"> |
| | 420827 | ········<SummaryInformation·id="129001"·lang="nl"> |
| | 420828 | ··········<TextSectionList·count="1"> |
| | 420829 | ············<TextSection·id="167925"·lang="nl"> |
| | 420830 | ··············<TextSectionType·id="16907"> |
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| | 420832 | ··············</TextSectionType> |
| | 420833 | ··············<Contents>Een·zeldzaam·genetisch·syndroom·met·multipele·congenitale·anomalieën/dysmorfie,·gekarakteriseerd·door·algehele·ontwikkelingsachterstand·en·intellectuele·achterstand,·progressieve·spondylo-epimetafysaire·dysplasie,·kleine·gestalte,·korte·vierde·metatarsalen,·en·dysmorfe·craniofaciale·kenmerken·(waaronder·microcefalie,·hypertelorisme,·epicanthusplooien,·milde·ptose,·strabisme,·hypoplasie·van·jukbeenderen,·korte·neus,·ingezakte·neusbrug,·volle·lippen,·kleine·en·laagstaande·oren,·en·korte·hals).·Craniosynostose,·gegeneraliseerde·hypotonie,·alsook·asymmetrie·van·de·cerebrale·hemisferen·en·milde·verdunning·van·het·corpus·callosum·waargenomen·bij·beeldvorming·van·de·hersenen·werden·ook·reeds·beschreven.</Contents> |
| | 420834 | ············</TextSection> |
| | 420835 | ··········</TextSectionList> |
| | 420836 | ········</SummaryInformation> |
| 420864 | ······</SummaryInformationList> | 420837 | ······</SummaryInformationList> |
| 420865 | ····</Disorder> | 420838 | ····</Disorder> |
| 420866 | ····<Disorder·id="23727"> | 420839 | ····<Disorder·id="23727"> |
| ⋮ | ⋮ |
| 423167 | ··············<TextSectionType·id="16907"> | 423140 | ··············<TextSectionType·id="16907"> |
| 423168 | ················<Name·lang="nl">Definitie·ziekte</Name> | 423141 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 423169 | ··············</TextSectionType> | 423142 | ··············</TextSectionType> |
| 423170 | ··············<Contents>Occipitale·hoornsyndroom·(OHS)·is·een·milde·vorm·van·de·ziekte·van·Menkes·(MD,·zie·deze·term),·een·syndroom·gekenmerkt·door·progressieve·neurodegeneratie·en·bindweefselaandoeningen·als·gevolg·van·een·kopertransportdefect.</Contents> | 423143 | ··············<Contents>Een·zeldzame·congenitale·aandoening·van·kopermetabolisme,·hoofdzakelijk·gekarakteriseerd·door·benige·exostosen·(inclusief·de·pathognomonische·occipitale·hoorns)·en·manifestaties·van·bindweefsel,·zoals·cutis·laxa·en·blaasdivertikels.·Betrokkenheid·van·centraal·zenuwstelsel·is·variabel.</Contents> |
| 423171 | ············</TextSection> | 423144 | ············</TextSection> |
| 423172 | ··········</TextSectionList> | 423145 | ··········</TextSectionList> |
| 423173 | ········</SummaryInformation> | 423146 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 423694 | ······</ExternalReferenceList> | 423667 | ······</ExternalReferenceList> |
| 423695 | ······<DisorderDisorderAssociationList·count="0"> | 423668 | ······<DisorderDisorderAssociationList·count="0"> |
| 423696 | ······</DisorderDisorderAssociationList> | 423669 | ······</DisorderDisorderAssociationList> |
| 423697 | ······<SummaryInformationList·count="1"> | 423670 | ······<SummaryInformationList·count="0"> |
| 423698 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 423699 | ··········<TextSectionList·count="0"> | |
| 423700 | ··········</TextSectionList> | |
| 423701 | ··········<TextAuto> | |
| 423702 | ············<Info·lang="nl">Deze·ziekte·is·niet·zeldzaam·in·Europa.·De·ziekte·maakt·geen·deel·uit·van·de·nomenclatuur·van·zeldzame·ziekten·van·Orphanet.</Info> | |
| 423703 | ··········</TextAuto> | |
| 423704 | ········</SummaryInformation> | |
| 423705 | ······</SummaryInformationList> | 423671 | ······</SummaryInformationList> |
| 423706 | ····</Disorder> | 423672 | ····</Disorder> |
| 423707 | ····<Disorder·id="24154"> | 423673 | ····<Disorder·id="24154"> |
| ⋮ | ⋮ |
| 423772 | ······</ExternalReferenceList> | 423738 | ······</ExternalReferenceList> |
| 423773 | ······<DisorderDisorderAssociationList·count="0"> | 423739 | ······<DisorderDisorderAssociationList·count="0"> |
| 423774 | ······</DisorderDisorderAssociationList> | 423740 | ······</DisorderDisorderAssociationList> |
| 423775 | ······<SummaryInformationList·count="1"> | 423741 | ······<SummaryInformationList·count="0"> |
| 423776 | ········<SummaryInformation·id="-1"·lang="nl"> | |
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| 423778 | ··········</TextSectionList> | |
| 423779 | ··········<TextAuto> | |
| 423780 | ············<Info·lang="nl">Deze·ziekte·is·niet·zeldzaam·in·Europa.·De·ziekte·maakt·geen·deel·uit·van·de·nomenclatuur·van·zeldzame·ziekten·van·Orphanet.</Info> | |
| 423781 | ··········</TextAuto> | |
| 423782 | ········</SummaryInformation> | |
| 423783 | ······</SummaryInformationList> | 423742 | ······</SummaryInformationList> |
| 423784 | ····</Disorder> | 423743 | ····</Disorder> |
| 423785 | ····<Disorder·id="24151"> | 423744 | ····<Disorder·id="24151"> |
| ⋮ | ⋮ |
| 423834 | ····<Disorder·id="24185"> | 423793 | ····<Disorder·id="24185"> |
| 423835 | ······<OrphaCode>466962</OrphaCode> | 423794 | ······<OrphaCode>466962</OrphaCode> |
| 423836 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=466962</ExpertLink> | 423795 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=466962</ExpertLink> |
| 423837 | ······<Name·lang="nl">SMARCA4-deficiënt·sarcoom·van·de·thorax</Name> | 423796 | ······<Name·lang="nl">SMARCA4-deficiënt·sarcoom·van·thorax</Name> |
| 423838 | ······<DisorderFlagList·count="1"> | 423797 | ······<DisorderFlagList·count="1"> |
| 423839 | ········<DisorderFlag·id="475"> | 423798 | ········<DisorderFlag·id="475"> |
| 423840 | ··········<Value>1</Value> | 423799 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 423867 | ······</ExternalReferenceList> | 423826 | ······</ExternalReferenceList> |
| 423868 | ······<DisorderDisorderAssociationList·count="0"> | 423827 | ······<DisorderDisorderAssociationList·count="0"> |
| 423869 | ······</DisorderDisorderAssociationList> | 423828 | ······</DisorderDisorderAssociationList> |
| 423870 | ······<SummaryInformationList·count="0"> | 423829 | ······<SummaryInformationList·count="1"> |
| | 423830 | ········<SummaryInformation·id="129143"·lang="nl"> |
| | 423831 | ··········<TextSectionList·count="1"> |
| | 423832 | ············<TextSection·id="167996"·lang="nl"> |
| | 423833 | ··············<TextSectionType·id="16907"> |
| | 423834 | ················<Name·lang="nl">Definitie·ziekte</Name> |
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| | 423836 | ··············<Contents>Een·zeldzame·tumor·van·weke·delen,·gekarakteriseerd·door·een·drukkende·massa·gesitueerd·in·mediastinum·en/of·pleura·en·long,·prominente·betrokkenheid·van·lymfeklieren,·histologisch·slecht·gedifferentieerd,·en·vaak·met·rhabdoïde·kenmerken.·Verlies·van·SMARCA4·gaat·doorgaans·gepaard·met·SMARCA2-deficiëntie.·Presenterende·symptomen·zijn·onder·meer·dyspneu,·hoest,·pijn·op·borst,·of·dysfagie.·De·tumoren·zijn·agressief·en·worden·gekenmerkt·door·beperkte·respons·op·chemotherapie,·snelle·locale·progressie,·hoog·recidiefpercentage·na·operatieve·excisie,·en·korte·mediane·overleving.·Er·is·een·sterke·associatie·met·roken.</Contents> |
| | 423837 | ············</TextSection> |
| | 423838 | ··········</TextSectionList> |
| | 423839 | ········</SummaryInformation> |
| 423871 | ······</SummaryInformationList> | 423840 | ······</SummaryInformationList> |
| 423872 | ····</Disorder> | 423841 | ····</Disorder> |
| 423873 | ····<Disorder·id="24183"> | 423842 | ····<Disorder·id="24183"> |
| ⋮ | ⋮ |
| 425168 | ······</ExternalReferenceList> | 425137 | ······</ExternalReferenceList> |
| 425169 | ······<DisorderDisorderAssociationList·count="0"> | 425138 | ······<DisorderDisorderAssociationList·count="0"> |
| 425170 | ······</DisorderDisorderAssociationList> | 425139 | ······</DisorderDisorderAssociationList> |
| 425171 | ······<SummaryInformationList·count="0"> | 425140 | ······<SummaryInformationList·count="1"> |
| | 425141 | ········<SummaryInformation·id="128989"·lang="nl"> |
| | 425142 | ··········<TextSectionList·count="1"> |
| | 425143 | ············<TextSection·id="167913"·lang="nl"> |
| | 425144 | ··············<TextSectionType·id="16907"> |
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| | 425147 | ··············<Contents>Een·zeldzame,·genetische·malformatie·van·centraal·zenuwstelsel,·gekarakteriseerd·door·dysplasie·van·het·bovenste·deel·van·het·cerebellum·(vooral·de·vermis),·asymmetrie·van·de·hersenstam,·dysplasie·van·basale·ganglia,·en·onregelmatigheden·van·de·cortex·met·asymmetrische·afwijkingen·van·grootte·en·oriëntatie·van·gyri,·alsook·variërende·diepte·van·sulci,·maar·zonder·lissencefalie,·pachygyrie,·of·polymicrogyrie.·Klinisch·vertonen·patiënten·algehele·ontwikkelingsachterstand,·waarbij·de·motorische·ontwikkeling·meestal·meer·aangetast·wordt·dan·de·spraak.·Variabele·kenmerken·zijn·abnormale·oogbewegingen·waaronder·oculomotorische·apraxie,·strabisme,·insulten,·en·gedragsproblemen.</Contents> |
| | 425148 | ············</TextSection> |
| | 425149 | ··········</TextSectionList> |
| | 425150 | ········</SummaryInformation> |
| 425172 | ······</SummaryInformationList> | 425151 | ······</SummaryInformationList> |
| 425173 | ····</Disorder> | 425152 | ····</Disorder> |
| 425174 | ····<Disorder·id="24203"> | 425153 | ····<Disorder·id="24203"> |
| ⋮ | ⋮ |
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| 426110 | ······<SynonymList·count="0"> | 426089 | ······<SynonymList·count="2"> |
| | 426090 | ········<Synonym·lang="nl">BBSOAS</Synonym> |
| | 426091 | ········<Synonym·lang="nl">Syndroom·van·opticusatrofie·van·Bosch-Boonstra-Schaaf</Synonym> |
| 426111 | ······</SynonymList> | 426092 | ······</SynonymList> |
| 426112 | ······<DisorderType·id="21394"> | 426093 | ······<DisorderType·id="21394"> |
| 426113 | ········<Name·lang="nl">Ziekte</Name> | 426094 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 427960 | ····<Disorder·id="22857"> | 427941 | ····<Disorder·id="22857"> |
| 427961 | ······<OrphaCode>401948</OrphaCode> | 427942 | ······<OrphaCode>401948</OrphaCode> |
| 427962 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=401948</ExpertLink> | 427943 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=401948</ExpertLink> |
| 427963 | ······<Name·lang="nl">Hyperammoniëmische·encefalopathie·door·carboanhydrase·VA-deficiëntie</Name> | 427944 | ······<Name·lang="nl">Hyperammoniëmische·encefalopathie·door·deficiëntie·van·koolzuuranhydrase·VA</Name> |
| 427964 | ······<DisorderFlagList·count="1"> | 427945 | ······<DisorderFlagList·count="1"> |
| 427965 | ········<DisorderFlag·id="475"> | 427946 | ········<DisorderFlag·id="475"> |
| 427966 | ··········<Value>1</Value> | 427947 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 429377 | ······</ExternalReferenceList> | 429358 | ······</ExternalReferenceList> |
| 429378 | ······<DisorderDisorderAssociationList·count="0"> | 429359 | ······<DisorderDisorderAssociationList·count="0"> |
| 429379 | ······</DisorderDisorderAssociationList> | 429360 | ······</DisorderDisorderAssociationList> |
| 429380 | ······<SummaryInformationList·count="1"> | 429361 | ······<SummaryInformationList·count="0"> |
| 429381 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 429382 | ··········<TextSectionList·count="0"> | |
| 429383 | ··········</TextSectionList> | |
| 429384 | ··········<TextAuto> | |
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| 429386 | ··········</TextAuto> | |
| 429387 | ········</SummaryInformation> | |
| 429388 | ······</SummaryInformationList> | 429362 | ······</SummaryInformationList> |
| 429389 | ····</Disorder> | 429363 | ····</Disorder> |
| 429390 | ····<Disorder·id="22945"> | 429364 | ····<Disorder·id="22945"> |
| ⋮ | ⋮ |
| 429609 | ····<Disorder·id="22925"> | 429583 | ····<Disorder·id="22925"> |
| 429610 | ······<OrphaCode>404466</OrphaCode> | 429584 | ······<OrphaCode>404466</OrphaCode> |
| 429611 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=404466</ExpertLink> | 429585 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=404466</ExpertLink> |
| 429612 | ······<Name·lang="nl">Vrouwelijke·onvruchtbaarheid·door·zona·pellucida-defect</Name> | 429586 | ······<Name·lang="nl">Vrouwelijke·infertiliteit·door·defect·van·zona·pellucida</Name> |
| 429613 | ······<DisorderFlagList·count="1"> | 429587 | ······<DisorderFlagList·count="1"> |
| 429614 | ········<DisorderFlag·id="475"> | 429588 | ········<DisorderFlag·id="475"> |
| 429615 | ··········<Value>1</Value> | 429589 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 430541 | ····<Disorder·id="22934"> | 430515 | ····<Disorder·id="22934"> |
| 430542 | ······<OrphaCode>404514</OrphaCode> | 430516 | ······<OrphaCode>404514</OrphaCode> |
| 430543 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=404514</ExpertLink> | 430517 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=404514</ExpertLink> |
| 430544 | ······<Name·lang="nl">Niercelcarcinoom·geassocieerd·met·een·verworven·cystische·ziekte</Name> | 430518 | ······<Name·lang="nl">Niercelcarcinoom·geassocieerd·met·verworven·cystische·ziekte</Name> |
| 430545 | ······<DisorderFlagList·count="1"> | 430519 | ······<DisorderFlagList·count="1"> |
| 430546 | ········<DisorderFlag·id="475"> | 430520 | ········<DisorderFlag·id="475"> |
| 430547 | ··········<Value>1</Value> | 430521 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 431014 | ······</ExternalReferenceList> | 430988 | ······</ExternalReferenceList> |
| 431015 | ······<DisorderDisorderAssociationList·count="0"> | 430989 | ······<DisorderDisorderAssociationList·count="0"> |
| 431016 | ······</DisorderDisorderAssociationList> | 430990 | ······</DisorderDisorderAssociationList> |
| 431017 | ······<SummaryInformationList·count="1"> | 430991 | ······<SummaryInformationList·count="0"> |
| 431018 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 431019 | ··········<TextSectionList·count="0"> | |
| 431020 | ··········</TextSectionList> | |
| 431021 | ··········<TextAuto> | |
| 431022 | ············<Info·lang="nl">Deze·ziekte·is·niet·zeldzaam·in·Europa.·De·ziekte·maakt·geen·deel·uit·van·de·nomenclatuur·van·zeldzame·ziekten·van·Orphanet.</Info> | |
| 431023 | ··········</TextAuto> | |
| 431024 | ········</SummaryInformation> | |
| 431025 | ······</SummaryInformationList> | 430992 | ······</SummaryInformationList> |
| 431026 | ····</Disorder> | 430993 | ····</Disorder> |
| 431027 | ····<Disorder·id="23018"> | 430994 | ····<Disorder·id="23018"> |
| ⋮ | ⋮ |
| 431219 | ····<Disorder·id="23021"> | 431186 | ····<Disorder·id="23021"> |
| 431220 | ······<OrphaCode>411593</OrphaCode> | 431187 | ······<OrphaCode>411593</OrphaCode> |
| 431221 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=411593</ExpertLink> | 431188 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=411593</ExpertLink> |
| 431222 | ······<Name·lang="nl">Insuline·auto-immuun·syndroom</Name> | 431189 | ······<Name·lang="nl">Insuline-auto-immuun·syndroom</Name> |
| 431223 | ······<DisorderFlagList·count="1"> | 431190 | ······<DisorderFlagList·count="1"> |
| 431224 | ········<DisorderFlag·id="475"> | 431191 | ········<DisorderFlag·id="475"> |
| 431225 | ··········<Value>1</Value> | 431192 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 435250 | ····<Disorder·id="22603"> | 435217 | ····<Disorder·id="22603"> |
| 435251 | ······<OrphaCode>391316</OrphaCode> | 435218 | ······<OrphaCode>391316</OrphaCode> |
| 435252 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=391316</ExpertLink> | 435219 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=391316</ExpertLink> |
| 435253 | ······<Name·lang="nl">Mesiale·temporaalkwabepilepsie·met·ernstige·cognitieve·regressie·met·infantiele·aanvang</Name> | 435220 | ······<Name·lang="nl">Infantiele·mesiale·temporaalkwabepilepsie·met·ernstige·cognitieve·regressie</Name> |
| 435254 | ······<DisorderFlagList·count="1"> | 435221 | ······<DisorderFlagList·count="1"> |
| 435255 | ········<DisorderFlag·id="475"> | 435222 | ········<DisorderFlag·id="475"> |
| 435256 | ··········<Value>1</Value> | 435223 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 435441 | ······</DisorderFlagList> | 435408 | ······</DisorderFlagList> |
| 435442 | ······<SynonymList·count="0"> | 435409 | ······<SynonymList·count="0"> |
| 435443 | ······</SynonymList> | 435410 | ······</SynonymList> |
| 435444 | ······<DisorderType·id="21394"> | 435411 | ······<DisorderType·id="21443"> |
| 435445 | ········<Name·lang="nl">Ziekte</Name> | 435412 | ········<Name·lang="nl">Etiologisch·subtype</Name> |
| 435446 | ······</DisorderType> | 435413 | ······</DisorderType> |
| 435447 | ······<DisorderGroup·id="36547"> | 435414 | ······<DisorderGroup·id="36554"> |
| 435448 | ········<Name·lang="nl">Aandoening</Name> | 435415 | ········<Name·lang="nl">Subtype·van·aandoening</Name> |
| 435449 | ······</DisorderGroup> | 435416 | ······</DisorderGroup> |
| 435450 | ······<ExternalReferenceList·count="3"> | 435417 | ······<ExternalReferenceList·count="3"> |
| 435451 | ········<ExternalReference·id="86186"> | 435418 | ········<ExternalReference·id="86186"> |
| ⋮ | ⋮ |
| 435707 | ······</ExternalReferenceList> | 435674 | ······</ExternalReferenceList> |
| 435708 | ······<DisorderDisorderAssociationList·count="0"> | 435675 | ······<DisorderDisorderAssociationList·count="0"> |
| 435709 | ······</DisorderDisorderAssociationList> | 435676 | ······</DisorderDisorderAssociationList> |
| 435710 | ······<SummaryInformationList·count="0"> | 435677 | ······<SummaryInformationList·count="1"> |
| | 435678 | ········<SummaryInformation·id="129133"·lang="nl"> |
| | 435679 | ··········<TextSectionList·count="1"> |
| | 435680 | ············<TextSection·id="167986"·lang="nl"> |
| | 435681 | ··············<TextSectionType·id="16907"> |
| | 435682 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 435683 | ··············</TextSectionType> |
| | 435684 | ··············<Contents>Een·zeldzame·urogenitale·tumor,·gekarakteriseerd·door·een·oorsprong·in·squameuze·epitheelcellen·van·de·penis,·doorgaans·de·eikel·of·de·binnenzijde·van·de·voorhuid.·Macroscopisch·kunnen·de·tumoren·er·papillair·of·plat·en·ulcererend·uitzien.·Histologische·subtypes·zijn·onder·meer·gewoon·plaveiselcelcarcinoom·als·meest·gangbare·type,·alsook·basaloïd,·wrattig,·verruceus,·papillair,·en·gemengd·carcinoom.·Patiënten·kunnen·initieel·asymptomatisch·zijn,·maar·vertonen·jeuk,·bloeding,·afscheiding,·onaangename·geur,·en·pijn·naarmate·de·ziekte·vordert.·Betrokkenheid·van·regionale·lymfeklieren·is·gangbaar,·terwijl·metastasen·op·afstand·pas·in·latere·stadia·van·de·ziekte·optreden.·Risicofactoren·zijn·onder·meer·HPV-infectie,·roken,·ondermaatse·hygiëne,·en·HIV-infectie.·Neonatale·besnijdenis·biedt·vermoedelijk·sterke·bescherming.</Contents> |
| | 435685 | ············</TextSection> |
| | 435686 | ··········</TextSectionList> |
| | 435687 | ········</SummaryInformation> |
| 435711 | ······</SummaryInformationList> | 435688 | ······</SummaryInformationList> |
| 435712 | ····</Disorder> | 435689 | ····</Disorder> |
| 435713 | ····<Disorder·id="22717"> | 435690 | ····<Disorder·id="22717"> |
| ⋮ | ⋮ |
| 435923 | ······</ExternalReferenceList> | 435900 | ······</ExternalReferenceList> |
| 435924 | ······<DisorderDisorderAssociationList·count="0"> | 435901 | ······<DisorderDisorderAssociationList·count="0"> |
| 435925 | ······</DisorderDisorderAssociationList> | 435902 | ······</DisorderDisorderAssociationList> |
| 435926 | ······<SummaryInformationList·count="1"> | 435903 | ······<SummaryInformationList·count="0"> |
| 435927 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 435928 | ··········<TextSectionList·count="0"> | |
| 435929 | ··········</TextSectionList> | |
| 435930 | ··········<TextAuto> | |
| 435931 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 435932 | ··········</TextAuto> | |
| 435933 | ········</SummaryInformation> | |
| 435934 | ······</SummaryInformationList> | 435904 | ······</SummaryInformationList> |
| 435935 | ····</Disorder> | 435905 | ····</Disorder> |
| 435936 | ····<Disorder·id="22715"> | 435906 | ····<Disorder·id="22715"> |
| ⋮ | ⋮ |
| 436503 | ····<Disorder·id="22705"> | 436473 | ····<Disorder·id="22705"> |
| 436504 | ······<OrphaCode>397927</OrphaCode> | 436474 | ······<OrphaCode>397927</OrphaCode> |
| 436505 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=397927</ExpertLink> | 436475 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=397927</ExpertLink> |
| 436506 | ······<Name·lang="nl">Sacrale·agenesie·-·abnormale·ossificatie·van·de·wervellichamen·-·persisterende·chorda·dorsalis-syndroom</Name> | 436476 | ······<Name·lang="nl">Sacrale·agenesie·-·abnormale·ossificatie·van·wervellichamen·-·persisterende·chorda·dorsalis-syndroom</Name> |
| 436507 | ······<DisorderFlagList·count="1"> | 436477 | ······<DisorderFlagList·count="1"> |
| 436508 | ········<DisorderFlag·id="475"> | 436478 | ········<DisorderFlag·id="475"> |
| 436509 | ··········<Value>1</Value> | 436479 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 436727 | ····<Disorder·id="22700"> | 436697 | ····<Disorder·id="22700"> |
| 436728 | ······<OrphaCode>397755</OrphaCode> | 436698 | ······<OrphaCode>397755</OrphaCode> |
| 436729 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=397755</ExpertLink> | 436699 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=397755</ExpertLink> |
| 436730 | ······<Name·lang="nl">Periodieke·verlamming·met·voorbijgaand·compartimentachtig·syndroom</Name> | 436700 | ······<Name·lang="nl">Periodieke·paralyse·met·voorbijgaand·compartimentachtig·syndroom</Name> |
| 436731 | ······<DisorderFlagList·count="1"> | 436701 | ······<DisorderFlagList·count="1"> |
| 436732 | ········<DisorderFlag·id="475"> | 436702 | ········<DisorderFlag·id="475"> |
| 436733 | ··········<Value>1</Value> | 436703 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 436895 | ····<Disorder·id="22699"> | 436865 | ····<Disorder·id="22699"> |
| 436896 | ······<OrphaCode>397750</OrphaCode> | 436866 | ······<OrphaCode>397750</OrphaCode> |
| 436897 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=397750</ExpertLink> | 436867 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=397750</ExpertLink> |
| 436898 | ······<Name·lang="nl">Periodieke·verlamming·met·later·aanvangende·distale·motorneuropathie</Name> | 436868 | ······<Name·lang="nl">Periodieke·paralyse·met·later·optredende·distale·motorische·neuropathie</Name> |
| 436899 | ······<DisorderFlagList·count="1"> | 436869 | ······<DisorderFlagList·count="1"> |
| 436900 | ········<DisorderFlag·id="475"> | 436870 | ········<DisorderFlag·id="475"> |
| 436901 | ··········<Value>1</Value> | 436871 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 437663 | ····<Disorder·id="22684"> | 437633 | ····<Disorder·id="22684"> |
| 437664 | ······<OrphaCode>397593</OrphaCode> | 437634 | ······<OrphaCode>397593</OrphaCode> |
| 437665 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=397593</ExpertLink> | 437635 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=397593</ExpertLink> |
| 437666 | ······<Name·lang="nl">Ernstige·neonatale·melkzuuracidose·door·NFS1-ISD11-complexdeficiëntie</Name> | 437636 | ······<Name·lang="nl">Ernstige·neonatale·lactaatacidose·door·deficiëntie·van·NFS1-ISD11-complex</Name> |
| 437667 | ······<DisorderFlagList·count="1"> | 437637 | ······<DisorderFlagList·count="1"> |
| 437668 | ········<DisorderFlag·id="475"> | 437638 | ········<DisorderFlag·id="475"> |
| 437669 | ··········<Value>1</Value> | 437639 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 438630 | ····<Disorder·id="22775"> | 438600 | ····<Disorder·id="22775"> |
| 438631 | ······<OrphaCode>399808</OrphaCode> | 438601 | ······<OrphaCode>399808</OrphaCode> |
| 438632 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=399808</ExpertLink> | 438602 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=399808</ExpertLink> |
| 438633 | ······<Name·lang="nl">Mannelijke·onvruchtbaarheid·met·teratozoöspermie·door·een·enkele·genmutatie</Name> | 438603 | ······<Name·lang="nl">Mannelijke·infertiliteit·met·teratozoöspermie·door·een·enkele·genmutatie</Name> |
| 438634 | ······<DisorderFlagList·count="1"> | 438604 | ······<DisorderFlagList·count="1"> |
| 438635 | ········<DisorderFlag·id="475"> | 438605 | ········<DisorderFlag·id="475"> |
| 438636 | ··········<Value>1</Value> | 438606 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 439953 | ····<Disorder·id="22747"> | 439923 | ····<Disorder·id="22747"> |
| 439954 | ······<OrphaCode>399086</OrphaCode> | 439924 | ······<OrphaCode>399086</OrphaCode> |
| 439955 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=399086</ExpertLink> | 439925 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=399086</ExpertLink> |
| 439956 | ······<Name·lang="nl">Finse·distale·myopathie·met·aanvang·in·de·bovenste·ledematen</Name> | 439926 | ······<Name·lang="nl">Distale·myopathie·met·aanvang·in·bovenste·ledematen,·Fins·type</Name> |
| 439957 | ······<DisorderFlagList·count="1"> | 439927 | ······<DisorderFlagList·count="1"> |
| 439958 | ········<DisorderFlag·id="475"> | 439928 | ········<DisorderFlag·id="475"> |
| 439959 | ··········<Value>1</Value> | 439929 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 440471 | ······</ExternalReferenceList> | 440441 | ······</ExternalReferenceList> |
| 440472 | ······<DisorderDisorderAssociationList·count="0"> | 440442 | ······<DisorderDisorderAssociationList·count="0"> |
| 440473 | ······</DisorderDisorderAssociationList> | 440443 | ······</DisorderDisorderAssociationList> |
| 440474 | ······<SummaryInformationList·count="1"> | 440444 | ······<SummaryInformationList·count="0"> |
| 440475 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 440476 | ··········<TextSectionList·count="0"> | |
| 440477 | ··········</TextSectionList> | |
| 440478 | ··········<TextAuto> | |
| 440479 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 440480 | ··········</TextAuto> | |
| 440481 | ········</SummaryInformation> | |
| 440482 | ······</SummaryInformationList> | 440445 | ······</SummaryInformationList> |
| 440483 | ····</Disorder> | 440446 | ····</Disorder> |
| 440484 | ····<Disorder·id="22741"> | 440447 | ····<Disorder·id="22741"> |
| ⋮ | ⋮ |
| 440555 | ······</ExternalReferenceList> | 440518 | ······</ExternalReferenceList> |
| 440556 | ······<DisorderDisorderAssociationList·count="0"> | 440519 | ······<DisorderDisorderAssociationList·count="0"> |
| 440557 | ······</DisorderDisorderAssociationList> | 440520 | ······</DisorderDisorderAssociationList> |
| 440558 | ······<SummaryInformationList·count="1"> | 440521 | ······<SummaryInformationList·count="0"> |
| 440559 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 440560 | ··········<TextSectionList·count="0"> | |
| 440561 | ··········</TextSectionList> | |
| 440562 | ··········<TextAuto> | |
| 440563 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 440564 | ··········</TextAuto> | |
| 440565 | ········</SummaryInformation> | |
| 440566 | ······</SummaryInformationList> | 440522 | ······</SummaryInformationList> |
| 440567 | ····</Disorder> | 440523 | ····</Disorder> |
| 440568 | ····<Disorder·id="22743"> | 440524 | ····<Disorder·id="22743"> |
| ⋮ | ⋮ |
| 441423 | ······</DisorderFlagList> | 441379 | ······</DisorderFlagList> |
| 441424 | ······<SynonymList·count="3"> | 441380 | ······<SynonymList·count="3"> |
| 441425 | ········<Synonym·lang="nl">Neonataal·APS</Synonym> | 441381 | ········<Synonym·lang="nl">Neonataal·APS</Synonym> |
| 441426 | ········<Synonym·lang="nl">Neonataal·Hughessyndroom</Synonym> | 441382 | ········<Synonym·lang="nl">Neonataal·antifosfolipide-antilichaamsyndroom</Synonym> |
| 441427 | ········<Synonym·lang="nl">Neonataal·antifosfolipiden-antilichamensyndroom</Synonym> | 441383 | ········<Synonym·lang="nl">Neonataal·syndroom·van·Hughes</Synonym> |
| 441428 | ······</SynonymList> | 441384 | ······</SynonymList> |
| 441429 | ······<DisorderType·id="21394"> | 441385 | ······<DisorderType·id="21394"> |
| 441430 | ········<Name·lang="nl">Ziekte</Name> | 441386 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 441465 | ····<Disorder·id="22726"> | 441421 | ····<Disorder·id="22726"> |
| 441466 | ······<OrphaCode>398109</OrphaCode> | 441422 | ······<OrphaCode>398109</OrphaCode> |
| 441467 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=398109</ExpertLink> | 441423 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=398109</ExpertLink> |
| 441468 | ······<Name·lang="nl">Neonatale·auto-immune·hemolytische·anemie</Name> | 441424 | ······<Name·lang="nl">Neonatale·auto-immuun·hemolytische·anemie</Name> |
| 441469 | ······<DisorderFlagList·count="1"> | 441425 | ······<DisorderFlagList·count="1"> |
| 441470 | ········<DisorderFlag·id="475"> | 441426 | ········<DisorderFlag·id="475"> |
| 441471 | ··········<Value>1</Value> | 441427 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 444568 | ······</ExternalReferenceList> | 444524 | ······</ExternalReferenceList> |
| 444569 | ······<DisorderDisorderAssociationList·count="0"> | 444525 | ······<DisorderDisorderAssociationList·count="0"> |
| 444570 | ······</DisorderDisorderAssociationList> | 444526 | ······</DisorderDisorderAssociationList> |
| 444571 | ······<SummaryInformationList·count="0"> | 444527 | ······<SummaryInformationList·count="1"> |
| | 444528 | ········<SummaryInformation·id="128984"·lang="nl"> |
| | 444529 | ··········<TextSectionList·count="1"> |
| | 444530 | ············<TextSection·id="167908"·lang="nl"> |
| | 444531 | ··············<TextSectionType·id="16907"> |
| | 444532 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 444533 | ··············</TextSectionType> |
| | 444534 | ··············<Contents>Een·zeldzame·congenitale·myopathie,·gekarakteriseerd·door·vroege·aanvang·van·ernstige·spierzwakte,·ademnood·door·verlamming·van·het·diafragma,·dysfagie·en·areflexie,·gewrichtscontracturen,·en·scoliose.·Bij·sommige·individuen·wordt·een·vermindering·van·de·foetale·bewegingen·waargenomen.·Spierbiopsie·toont·mogelijk·een·combinatie·van·dystrofische·en·myopathische·kenmerken.·Het·klinische·verloop·is·variabel,·en·sommige·patiënten·worden·afhankelijk·van·kunstmatige·beademing·en·verkrijgen·nooit·zelfstandig·loopvermogen.</Contents> |
| | 444535 | ············</TextSection> |
| | 444536 | ··········</TextSectionList> |
| | 444537 | ········</SummaryInformation> |
| 444572 | ······</SummaryInformationList> | 444538 | ······</SummaryInformationList> |
| 444573 | ····</Disorder> | 444539 | ····</Disorder> |
| 444574 | ····<Disorder·id="23381"> | 444540 | ····<Disorder·id="23381"> |
| ⋮ | ⋮ |
| 445693 | ····<Disorder·id="23402"> | 445659 | ····<Disorder·id="23402"> |
| 445694 | ······<OrphaCode>440368</OrphaCode> | 445660 | ······<OrphaCode>440368</OrphaCode> |
| 445695 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=440368</ExpertLink> | 445661 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=440368</ExpertLink> |
| 445696 | ······<Name·lang="nl">Necrotiserende·wekedeleninfectie</Name> | 445662 | ······<Name·lang="nl">Necrotiserende·infectie·van·weke·delen</Name> |
| 445697 | ······<DisorderFlagList·count="1"> | 445663 | ······<DisorderFlagList·count="1"> |
| 445698 | ········<DisorderFlag·id="475"> | 445664 | ········<DisorderFlag·id="475"> |
| 445699 | ··········<Value>1</Value> | 445665 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 446278 | ··········</DisorderDisorderAssociationType> | 446244 | ··········</DisorderDisorderAssociationType> |
| 446279 | ········</DisorderDisorderAssociation> | 446245 | ········</DisorderDisorderAssociation> |
| 446280 | ······</DisorderDisorderAssociationList> | 446246 | ······</DisorderDisorderAssociationList> |
| 446281 | ······<SummaryInformationList·count="1"> | 446247 | ······<SummaryInformationList·count="0"> |
| 446282 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 446283 | ··········<TextSectionList·count="0"> | |
| 446284 | ··········</TextSectionList> | |
| 446285 | ··········<TextAuto> | |
| 446286 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 446287 | ··········</TextAuto> | |
| 446288 | ········</SummaryInformation> | |
| 446289 | ······</SummaryInformationList> | 446248 | ······</SummaryInformationList> |
| 446290 | ····</Disorder> | 446249 | ····</Disorder> |
| 446291 | ····<Disorder·id="23422"> | 446250 | ····<Disorder·id="23422"> |
| ⋮ | ⋮ |
| 448260 | ····<Disorder·id="23454"> | 448219 | ····<Disorder·id="23454"> |
| 448261 | ······<OrphaCode>443287</OrphaCode> | 448220 | ······<OrphaCode>443287</OrphaCode> |
| 448262 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=443287</ExpertLink> | 448221 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=443287</ExpertLink> |
| 448263 | ······<Name·lang="nl">ACTH-onafhankelijk·Cushingsyndroom·door·een·zeldzame·cortisolproducerende·adrenale·tumor</Name> | 448222 | ······<Name·lang="nl">ACTH-onafhankelijk·syndroom·van·Cushing·door·zeldzame·cortisolproducerende·adrenale·tumor</Name> |
| 448264 | ······<DisorderFlagList·count="1"> | 448223 | ······<DisorderFlagList·count="1"> |
| 448265 | ········<DisorderFlag·id="475"> | 448224 | ········<DisorderFlag·id="475"> |
| 448266 | ··········<Value>1</Value> | 448225 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 450543 | ······</ExternalReferenceList> | 450502 | ······</ExternalReferenceList> |
| 450544 | ······<DisorderDisorderAssociationList·count="0"> | 450503 | ······<DisorderDisorderAssociationList·count="0"> |
| 450545 | ······</DisorderDisorderAssociationList> | 450504 | ······</DisorderDisorderAssociationList> |
| 450546 | ······<SummaryInformationList·count="0"> | 450505 | ······<SummaryInformationList·count="1"> |
| | 450506 | ········<SummaryInformation·id="129112"·lang="nl"> |
| | 450507 | ··········<TextSectionList·count="1"> |
| | 450508 | ············<TextSection·id="167965"·lang="nl"> |
| | 450509 | ··············<TextSectionType·id="16907"> |
| | 450510 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 450511 | ··············</TextSectionType> |
| | 450512 | ··············<Contents>Een·zeldzame,·genetische·aandoening·van·huid,·gekarakteriseerd·door·gegeneraliseerde·afschilfering·van·huid,·leukonychie,·meervoudige·acrale·keratosis·punctata·die·samenvloeit·tot·focale·keratodermie·op·gewichtsdragende·gebieden,·cheilitis·angularis,·en·knokkelkussentjes·met·multipele·hyperkeratotische·micropapels.·De·huid·lijkt·droog·en·schilferig·met·oppervlakkige·exfoliatie·en·onderliggend·erytheem.·Histopathologisch·onderzoek·van·getroffen·delen·van·de·huid·toont·hyperkeratose,·acanthose,·en·intra-epidermale·schisis·met·onregelmatige·acantholyse.·Bijkomende·systemische·afwijkingen·zijn·afwezig.</Contents> |
| | 450513 | ············</TextSection> |
| | 450514 | ··········</TextSectionList> |
| | 450515 | ········</SummaryInformation> |
| 450547 | ······</SummaryInformationList> | 450516 | ······</SummaryInformationList> |
| 450548 | ····</Disorder> | 450517 | ····</Disorder> |
| 450549 | ····<Disorder·id="23473"> | 450518 | ····<Disorder·id="23473"> |
| ⋮ | ⋮ |
| 451021 | ····<Disorder·id="23490"> | 450990 | ····<Disorder·id="23490"> |
| 451022 | ······<OrphaCode>444463</OrphaCode> | 450991 | ······<OrphaCode>444463</OrphaCode> |
| 451023 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=444463</ExpertLink> | 450992 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=444463</ExpertLink> |
| 451024 | ······<Name·lang="nl">Auto-immune·hemolytische·anemie·-·auto-immune·trombocytopenie·-·primaire·immuundeficiëntie-syndroom</Name> | 450993 | ······<Name·lang="nl">Auto-immuun·hemolytische·anemie·-·auto-immuun·trombocytopenie·-·primaire·immuundeficiëntie-syndroom</Name> |
| 451025 | ······<DisorderFlagList·count="1"> | 450994 | ······<DisorderFlagList·count="1"> |
| 451026 | ········<DisorderFlag·id="475"> | 450995 | ········<DisorderFlag·id="475"> |
| 451027 | ··········<Value>1</Value> | 450996 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 451029 | ········</DisorderFlag> | 450998 | ········</DisorderFlag> |
| 451030 | ······</DisorderFlagList> | 450999 | ······</DisorderFlagList> |
| 451031 | ······<SynonymList·count="3"> | 451000 | ······<SynonymList·count="3"> |
| 451032 | ········<Synonym·lang="nl">Evanssyndroom·geassocieerd·met·primaire·immuundeficiëntie</Synonym> | 451001 | ········<Synonym·lang="nl">Syndroom·van·Evans·geassocieerd·met·primaire·immuundeficiëntie</Synonym> |
| 451033 | ········<Synonym·lang="nl">TPPII-gerelateerde·immuundeficiëntie,·auto-immuniteit·en·neuro-ontwikkelingsachterstand·met·verstoorde·glycolyse·en·lysosomale·expansie</Synonym> | 451002 | ········<Synonym·lang="nl">TPPII-gerelateerde·immuundeficiëntie,·auto-immuniteit·en·neuro-ontwikkelingsachterstand·met·verstoorde·glycolyse·en·lysosomale·expansie</Synonym> |
| 451034 | ········<Synonym·lang="nl">TRIANGLE-ziekte</Synonym> | 451003 | ········<Synonym·lang="nl">TRIANGLE-ziekte</Synonym> |
| 451035 | ······</SynonymList> | 451004 | ······</SynonymList> |
| ⋮ | ⋮ |
| 453561 | ··············<TextSectionType·id="16907"> | 453530 | ··············<TextSectionType·id="16907"> |
| 453562 | ················<Name·lang="nl">Definitie·ziekte</Name> | 453531 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 453563 | ··············</TextSectionType> | 453532 | ··············</TextSectionType> |
| 453564 | ··············<Contents>Overgroeisyndroom·van·Malan·is·een·syndroom·met·meervoudige·congenitale·anomalieën·dat·gekarakteriseerd·wordt·door·matige·postnatale·overgroei,·macrocefalie,·craniofaciale·dysmorfie·(met·een·hoog·voorhoofd·en·hoge·voorste·haarlijn,·schuin·aflopende·ooglidspleten,·een·prominente·kin),·ontwikkelingsachterstand,·en·intellectuele·achterstand.·Bijkomende·variabele·manifestaties·zijn·ongewoon·gedrag,·met·of·zonder·autistische·kenmerken,·alsook·oculaire·(e.g.·strabisme,·nystagmus,·bleekheid/hypoplasie·van·de·papil),·gastro-intestinale·(e.g.·braken,·chronische·diarree,·constipatie),·musculoskeletale·(e.g.·scoliose·en·pectus·excavatum·(trechterborst)),·hand/voet-·(e.g.·lange,·spitse·vingers),·en·centraal·zenuwstelsel-·(e.g.·licht·vergrote·ventrikels)·anomalieën.</Contents> | 453533 | ··············<Contents>Een·zeldzame·multisystemische·genetische·aandoening,·gekarakteriseerd·door·typische·gelaatskenmerken·met·macrocefalie,·overgroei·in·de·zuigelingentijd,·intellectuele·achterstand,·en·gedragsproblemen·waaronder·angsten·en·agressie.</Contents> |
| 453565 | ············</TextSection> | 453534 | ············</TextSection> |
| 453566 | ··········</TextSectionList> | 453535 | ··········</TextSectionList> |
| 453567 | ········</SummaryInformation> | 453536 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 454417 | ····<Disorder·id="23104"> | 454386 | ····<Disorder·id="23104"> |
| 454418 | ······<OrphaCode>420402</OrphaCode> | 454387 | ······<OrphaCode>420402</OrphaCode> |
| 454419 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=420402</ExpertLink> | 454388 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=420402</ExpertLink> |
| 454420 | ······<Name·lang="nl">Semicirculair·kanaal-dehiscentiesyndroom</Name> | 454389 | ······<Name·lang="nl">Dehiscentie·van·canalis·semicircularis-syndroom</Name> |
| 454421 | ······<DisorderFlagList·count="1"> | 454390 | ······<DisorderFlagList·count="1"> |
| 454422 | ········<DisorderFlag·id="475"> | 454391 | ········<DisorderFlag·id="475"> |
| 454423 | ··········<Value>1</Value> | 454392 | ··········<Value>1</Value> |
| 454424 | ··········<Label></Label> | 454393 | ··········<Label></Label> |
| 454425 | ········</DisorderFlag> | 454394 | ········</DisorderFlag> |
| 454426 | ······</DisorderFlagList> | 454395 | ······</DisorderFlagList> |
| 454427 | ······<SynonymList·count="1"> | 454396 | ······<SynonymList·count="2"> |
| | 454397 | ········<Synonym·lang="nl">'Semicircular·canal·deshiscence'-syndroom</Synonym> |
| 454428 | ········<Synonym·lang="nl">SCD-syndroom</Synonym> | 454398 | ········<Synonym·lang="nl">SCD-syndroom</Synonym> |
| 454429 | ······</SynonymList> | 454399 | ······</SynonymList> |
| 454430 | ······<DisorderType·id="21422"> | 454400 | ······<DisorderType·id="21422"> |
| ⋮ | ⋮ |
| 455487 | ······</ExternalReferenceList> | 455457 | ······</ExternalReferenceList> |
| 455488 | ······<DisorderDisorderAssociationList·count="0"> | 455458 | ······<DisorderDisorderAssociationList·count="0"> |
| 455489 | ······</DisorderDisorderAssociationList> | 455459 | ······</DisorderDisorderAssociationList> |
| 455490 | ······<SummaryInformationList·count="1"> | 455460 | ······<SummaryInformationList·count="0"> |
| 455491 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 455492 | ··········<TextSectionList·count="0"> | |
| 455493 | ··········</TextSectionList> | |
| 455494 | ··········<TextAuto> | |
| 455495 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 455496 | ··········</TextAuto> | |
| 455497 | ········</SummaryInformation> | |
| 455498 | ······</SummaryInformationList> | 455461 | ······</SummaryInformationList> |
| 455499 | ····</Disorder> | 455462 | ····</Disorder> |
| 455500 | ····<Disorder·id="23164"> | 455463 | ····<Disorder·id="23164"> |
| ⋮ | ⋮ |
| 455847 | ····<Disorder·id="23137"> | 455810 | ····<Disorder·id="23137"> |
| 455848 | ······<OrphaCode>422519</OrphaCode> | 455811 | ······<OrphaCode>422519</OrphaCode> |
| 455849 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=422519</ExpertLink> | 455812 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=422519</ExpertLink> |
| 455850 | ······<Name·lang="nl">OBSOLEET:·3-Fosfoglyceraatdehydrogenasedeficiëntie</Name> | 455813 | ······<Name·lang="nl">OBSOLEET:·Deficiëntie·van·3-fosfoglyceraatdehydrogenase</Name> |
| 455851 | ······<DisorderFlagList·count="2"> | 455814 | ······<DisorderFlagList·count="2"> |
| 455852 | ········<DisorderFlag·id="495"> | 455815 | ········<DisorderFlag·id="495"> |
| 455853 | ··········<Value>8192</Value> | 455816 | ··········<Value>8192</Value> |
| ⋮ | ⋮ |
| 455873 | ········<DisorderDisorderAssociation> | 455836 | ········<DisorderDisorderAssociation> |
| 455874 | ··········<TargetDisorder·id="11377"> | 455837 | ··········<TargetDisorder·id="11377"> |
| 455875 | ············<OrphaCode>79351</OrphaCode> | 455838 | ············<OrphaCode>79351</OrphaCode> |
| 455876 | ············<Name·lang="nl">3-Fosfoglyceraatdehydrogenasedeficiëntie,·infantiele/juveniele·vorm</Name> | 455839 | ············<Name·lang="nl">Deficiëntie·van·3-fosfoglyceraatdehydrogenase,·infantiele/juveniele·vorm</Name> |
| 455877 | ··········</TargetDisorder> | 455840 | ··········</TargetDisorder> |
| 455878 | ··········<RootDisorder·id="23137"·cycle="true"/> | 455841 | ··········<RootDisorder·id="23137"·cycle="true"/> |
| 455879 | ··········<DisorderDisorderAssociationType·id="27341"> | 455842 | ··········<DisorderDisorderAssociationType·id="27341"> |
| ⋮ | ⋮ |
| 456335 | ····<Disorder·id="23197"> | 456298 | ····<Disorder·id="23197"> |
| 456336 | ······<OrphaCode>424107</OrphaCode> | 456299 | ······<OrphaCode>424107</OrphaCode> |
| 456337 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=424107</ExpertLink> | 456300 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=424107</ExpertLink> |
| 456338 | ······<Name·lang="nl">Congenitale·myopathie·met·myastheenachtige·aanvang</Name> | 456301 | ······<Name·lang="nl">Congenitale·myopathie·met·myasthenie-achtige·aanvang</Name> |
| 456339 | ······<DisorderFlagList·count="1"> | 456302 | ······<DisorderFlagList·count="1"> |
| 456340 | ········<DisorderFlag·id="475"> | 456303 | ········<DisorderFlag·id="475"> |
| 456341 | ··········<Value>1</Value> | 456304 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 456867 | ······</ExternalReferenceList> | 456830 | ······</ExternalReferenceList> |
| 456868 | ······<DisorderDisorderAssociationList·count="0"> | 456831 | ······<DisorderDisorderAssociationList·count="0"> |
| 456869 | ······</DisorderDisorderAssociationList> | 456832 | ······</DisorderDisorderAssociationList> |
| 456870 | ······<SummaryInformationList·count="1"> | 456833 | ······<SummaryInformationList·count="0"> |
| 456871 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 456872 | ··········<TextSectionList·count="0"> | |
| 456873 | ··········</TextSectionList> | |
| 456874 | ··········<TextAuto> | |
| 456875 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 456876 | ··········</TextAuto> | |
| 456877 | ········</SummaryInformation> | |
| 456878 | ······</SummaryInformationList> | 456834 | ······</SummaryInformationList> |
| 456879 | ····</Disorder> | 456835 | ····</Disorder> |
| 456880 | ····<Disorder·id="23191"> | 456836 | ····<Disorder·id="23191"> |
| ⋮ | ⋮ |
| 457237 | ··········</DisorderDisorderAssociationType> | 457193 | ··········</DisorderDisorderAssociationType> |
| 457238 | ········</DisorderDisorderAssociation> | 457194 | ········</DisorderDisorderAssociation> |
| 457239 | ······</DisorderDisorderAssociationList> | 457195 | ······</DisorderDisorderAssociationList> |
| 457240 | ······<SummaryInformationList·count="1"> | 457196 | ······<SummaryInformationList·count="0"> |
| 457241 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 457242 | ··········<TextSectionList·count="0"> | |
| 457243 | ··········</TextSectionList> | |
| 457244 | ··········<TextAuto> | |
| 457245 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 457246 | ··········</TextAuto> | |
| 457247 | ········</SummaryInformation> | |
| 457248 | ······</SummaryInformationList> | 457197 | ······</SummaryInformationList> |
| 457249 | ····</Disorder> | 457198 | ····</Disorder> |
| 457250 | ····<Disorder·id="23178"> | 457199 | ····<Disorder·id="23178"> |
| ⋮ | ⋮ |
| 457835 | ······</ExternalReferenceList> | 457784 | ······</ExternalReferenceList> |
| 457836 | ······<DisorderDisorderAssociationList·count="0"> | 457785 | ······<DisorderDisorderAssociationList·count="0"> |
| 457837 | ······</DisorderDisorderAssociationList> | 457786 | ······</DisorderDisorderAssociationList> |
| 457838 | ······<SummaryInformationList·count="1"> | 457787 | ······<SummaryInformationList·count="0"> |
| 457839 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 457840 | ··········<TextSectionList·count="0"> | |
| 457841 | ··········</TextSectionList> | |
| 457842 | ··········<TextAuto> | |
| 457843 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 457844 | ··········</TextAuto> | |
| 457845 | ········</SummaryInformation> | |
| 457846 | ······</SummaryInformationList> | 457788 | ······</SummaryInformationList> |
| 457847 | ····</Disorder> | 457789 | ····</Disorder> |
| 457848 | ····<Disorder·id="23172"> | 457790 | ····<Disorder·id="23172"> |
| ⋮ | ⋮ |
| 457958 | ······</ExternalReferenceList> | 457900 | ······</ExternalReferenceList> |
| 457959 | ······<DisorderDisorderAssociationList·count="0"> | 457901 | ······<DisorderDisorderAssociationList·count="0"> |
| 457960 | ······</DisorderDisorderAssociationList> | 457902 | ······</DisorderDisorderAssociationList> |
| 457961 | ······<SummaryInformationList·count="1"> | 457903 | ······<SummaryInformationList·count="0"> |
| 457962 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 457963 | ··········<TextSectionList·count="0"> | |
| 457964 | ··········</TextSectionList> | |
| 457965 | ··········<TextAuto> | |
| 457966 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 457967 | ··········</TextAuto> | |
| 457968 | ········</SummaryInformation> | |
| 457969 | ······</SummaryInformationList> | 457904 | ······</SummaryInformationList> |
| 457970 | ····</Disorder> | 457905 | ····</Disorder> |
| 457971 | ····<Disorder·id="23231"> | 457906 | ····<Disorder·id="23231"> |
| ⋮ | ⋮ |
| 458050 | ······</ExternalReferenceList> | 457985 | ······</ExternalReferenceList> |
| 458051 | ······<DisorderDisorderAssociationList·count="0"> | 457986 | ······<DisorderDisorderAssociationList·count="0"> |
| 458052 | ······</DisorderDisorderAssociationList> | 457987 | ······</DisorderDisorderAssociationList> |
| 458053 | ······<SummaryInformationList·count="1"> | 457988 | ······<SummaryInformationList·count="0"> |
| 458054 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 458055 | ··········<TextSectionList·count="0"> | |
| 458056 | ··········</TextSectionList> | |
| 458057 | ··········<TextAuto> | |
| 458058 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 458059 | ··········</TextAuto> | |
| 458060 | ········</SummaryInformation> | |
| 458061 | ······</SummaryInformationList> | 457989 | ······</SummaryInformationList> |
| 458062 | ····</Disorder> | 457990 | ····</Disorder> |
| 458063 | ····<Disorder·id="23208"> | 457991 | ····<Disorder·id="23208"> |
| ⋮ | ⋮ |
| 459604 | ······</ExternalReferenceList> | 459532 | ······</ExternalReferenceList> |
| 459605 | ······<DisorderDisorderAssociationList·count="0"> | 459533 | ······<DisorderDisorderAssociationList·count="0"> |
| 459606 | ······</DisorderDisorderAssociationList> | 459534 | ······</DisorderDisorderAssociationList> |
| 459607 | ······<SummaryInformationList·count="0"> | 459535 | ······<SummaryInformationList·count="1"> |
| | 459536 | ········<SummaryInformation·id="129131"·lang="nl"> |
| | 459537 | ··········<TextSectionList·count="1"> |
| | 459538 | ············<TextSection·id="167984"·lang="nl"> |
| | 459539 | ··············<TextSectionType·id="16907"> |
| | 459540 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 459541 | ··············</TextSectionType> |
| | 459542 | ··············<Contents>Een·zeldzame,·genetische·aandoening·van·bot,·gekarakteriseerd·door·multifocale,·pijnloze,·goedaardige·fibrocemento-osseuze·laesies·van·kaak·die·progressief·uitbreiden·en·ernstige·misvorming·van·het·aangezicht·kunnen·veroorzaken.·Het·manifesteert·zich·meestal·op·jonge·leeftijd,·en·is·vaak·geassocieerd·met·afwijkingen·van·de·pijpbeenderen·en·pathologische·fracturen.·Radiologisch·hebben·de·laesies·een·gemengd·radio-opaak/radiolucent·uiterlijk.·Onvolledige·operatieve·verwijdering·kan·leiden·tot·snellere·groei·van·de·resterende·laesie.</Contents> |
| | 459543 | ············</TextSection> |
| | 459544 | ··········</TextSectionList> |
| | 459545 | ········</SummaryInformation> |
| 459608 | ······</SummaryInformationList> | 459546 | ······</SummaryInformationList> |
| 459609 | ····</Disorder> | 459547 | ····</Disorder> |
| 459610 | ····<Disorder·id="23290"> | 459548 | ····<Disorder·id="23290"> |
| ⋮ | ⋮ |
| 460041 | ··········<TargetDisorder·id="8768"·cycle="true"/> | 459979 | ··········<TargetDisorder·id="8768"·cycle="true"/> |
| 460042 | ··········<RootDisorder·id="14473"> | 459980 | ··········<RootDisorder·id="14473"> |
| 460043 | ············<OrphaCode>99900</OrphaCode> | 459981 | ············<OrphaCode>99900</OrphaCode> |
| 460044 | ············<Name·lang="nl">Lange·keten·acyl-CoA-dehydrogenasedeficiëntie</Name> | 459982 | ············<Name·lang="nl">Deficiëntie·van·lange-keten-acyl-CoA-dehydrogenase</Name> |
| 460045 | ··········</RootDisorder> | 459983 | ··········</RootDisorder> |
| 460046 | ··········<DisorderDisorderAssociationType·id="21471"> | 459984 | ··········<DisorderDisorderAssociationType·id="21471"> |
| 460047 | ············<Name·lang="nl">Verplaatst·naar</Name> | 459985 | ············<Name·lang="nl">Verplaatst·naar</Name> |
| ⋮ | ⋮ |
| 461842 | ······</ExternalReferenceList> | 461780 | ······</ExternalReferenceList> |
| 461843 | ······<DisorderDisorderAssociationList·count="0"> | 461781 | ······<DisorderDisorderAssociationList·count="0"> |
| 461844 | ······</DisorderDisorderAssociationList> | 461782 | ······</DisorderDisorderAssociationList> |
| 461845 | ······<SummaryInformationList·count="1"> | 461783 | ······<SummaryInformationList·count="0"> |
| 461846 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 461847 | ··········<TextSectionList·count="0"> | |
| 461848 | ··········</TextSectionList> | |
| 461849 | ··········<TextAuto> | |
| 461850 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 461851 | ··········</TextAuto> | |
| 461852 | ········</SummaryInformation> | |
| 461853 | ······</SummaryInformationList> | 461784 | ······</SummaryInformationList> |
| 461854 | ····</Disorder> | 461785 | ····</Disorder> |
| 461855 | ····<Disorder·id="8750"> | 461786 | ····<Disorder·id="8750"> |
| ⋮ | ⋮ |
| 465542 | ··············<TextSectionType·id="16907"> | 465473 | ··············<TextSectionType·id="16907"> |
| 465543 | ················<Name·lang="nl">Definitie·ziekte</Name> | 465474 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 465544 | ··············</TextSectionType> | 465475 | ··············</TextSectionType> |
| 465545 | ··············<Contents>Een·zeldzame,·genetische·aandoening,·gekarakteriseerd·door·vroeg·aanvangende·ademhalingsproblemen·en·frequente·luchtweginfecties,·congenitale·hartdefecten,·dysostosis·multiplex,·hepatosplenomegalie,·betrokkenheid·van·nier,·hematopoëtische·afwijkingen,·faciale·dysmorfie·(ruwe·gelaatskenmerken,·groot·voorhoofd,·synophrys,·lange·wimpers,·brede·neusbrug,·macroglossie,·korte·nek,·en·lage·haarlijn),·en·algehele·ontwikkelingsachterstand.·Laboratoriumonderzoek·toont·verhoogde·excretie·van·glycosaminoglycanen·in·urine·en·verhoogd·gehalte·van·heparansulfaat·in·plasma,·maar·geen·lysosomale·enzymdeficiëntie.·De·aandoening·is·meestal·fataal·in·het·eerste·levensjaren.</Contents> | 465476 | ··············<Contents>Een·zeldzame,·genetische·aandoening,·gekarakteriseerd·door·vroeg·aanvangende·ademhalingsproblemen·en·frequente·luchtweginfecties,·congenitale·hartdefecten,·dysostosis·multiplex,·hepatosplenomegalie,·betrokkenheid·van·nier,·hematopoëtische·afwijkingen,·faciale·dysmorfie·(ruwe·gelaatskenmerken,·groot·voorhoofd,·synophrys,·lange·wimpers,·brede·neusbrug,·macroglossie,·korte·nek,·en·lage·haarlijn),·en·algehele·ontwikkelingsachterstand.·Laboratoriumonderzoek·toont·verhoogde·excretie·van·glycosaminoglycanen·in·urine·en·verhoogd·gehalte·van·heparansulfaat·in·plasma,·maar·geen·lysosomale·enzymdeficiëntie.·De·aandoening·is·meestal·fataal·in·de·eerste·levensjaren.</Contents> |
| 465546 | ············</TextSection> | 465477 | ············</TextSection> |
| 465547 | ··········</TextSectionList> | 465478 | ··········</TextSectionList> |
| 465548 | ········</SummaryInformation> | 465479 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 467471 | ······</ExternalReferenceList> | 467402 | ······</ExternalReferenceList> |
| 467472 | ······<DisorderDisorderAssociationList·count="0"> | 467403 | ······<DisorderDisorderAssociationList·count="0"> |
| 467473 | ······</DisorderDisorderAssociationList> | 467404 | ······</DisorderDisorderAssociationList> |
| 467474 | ······<SummaryInformationList·count="0"> | 467405 | ······<SummaryInformationList·count="1"> |
| | 467406 | ········<SummaryInformation·id="129154"·lang="nl"> |
| | 467407 | ··········<TextSectionList·count="1"> |
| | 467408 | ············<TextSection·id="168007"·lang="nl"> |
| | 467409 | ··············<TextSectionType·id="16907"> |
| | 467410 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 467411 | ··············</TextSectionType> |
| | 467412 | ··············<Contents>Een·zeldzame·malformatie·van·urogenitaal·stelsel,·gekarakteriseerd·door·volledige·afwezigheid·van·scrotale·rugae·in·het·perineum·tussen·penis·en·anus,·en·bilaterale·testikels·die·aanwezig·zijn·in·een·niet-ingedaalde·of·ectopische·positie.·Agenesie·van·hemiscrotum·verwijst·naar·de·unilaterale·afwezigheid·van·huid·van·scrotum·met·intacte·mediane·raphe·en·ipsilateraal·cryptorchisme.·Beide·malformaties·kunnen·geïsoleerd·voorkomen,·of·geassocieerd·zijn·met·andere·anomalieën.</Contents> |
| | 467413 | ············</TextSection> |
| | 467414 | ··········</TextSectionList> |
| | 467415 | ········</SummaryInformation> |
| 467475 | ······</SummaryInformationList> | 467416 | ······</SummaryInformationList> |
| 467476 | ····</Disorder> | 467417 | ····</Disorder> |
| 467477 | ····<Disorder·id="25804"> | 467418 | ····<Disorder·id="25804"> |
| ⋮ | ⋮ |
| 468160 | ····<Disorder·id="25679"> | 468101 | ····<Disorder·id="25679"> |
| 468161 | ······<OrphaCode>494454</OrphaCode> | 468102 | ······<OrphaCode>494454</OrphaCode> |
| 468162 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=494454</ExpertLink> | 468103 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=494454</ExpertLink> |
| 468163 | ······<Name·lang="nl">Adenocarcinoom·van·de·vulva</Name> | 468104 | ······<Name·lang="nl">Adenocarcinoom·van·vulva</Name> |
| 468164 | ······<DisorderFlagList·count="1"> | 468105 | ······<DisorderFlagList·count="1"> |
| 468165 | ········<DisorderFlag·id="475"> | 468106 | ········<DisorderFlag·id="475"> |
| 468166 | ··········<Value>1</Value> | 468107 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 468192 | ······</ExternalReferenceList> | 468133 | ······</ExternalReferenceList> |
| 468193 | ······<DisorderDisorderAssociationList·count="0"> | 468134 | ······<DisorderDisorderAssociationList·count="0"> |
| 468194 | ······</DisorderDisorderAssociationList> | 468135 | ······</DisorderDisorderAssociationList> |
| 468195 | ······<SummaryInformationList·count="0"> | 468136 | ······<SummaryInformationList·count="1"> |
| | 468137 | ········<SummaryInformation·id="129142"·lang="nl"> |
| | 468138 | ··········<TextSectionList·count="1"> |
| | 468139 | ············<TextSection·id="167995"·lang="nl"> |
| | 468140 | ··············<TextSectionType·id="16907"> |
| | 468141 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 468142 | ··············</TextSectionType> |
| | 468143 | ··············<Contents>Een·zeldzaam·carcinoom·van·vulva,·gekarakteriseerd·door·een·maligne·epitheliaal·neoplasma·van·glandulaire·oorsprong·en/of·met·glandulaire·kenmerken·dat·ontstaat·in·vulva,·waaronder·adenocarcinoom·van·borstklier-type,·zweetklier-type,·en·intestinaal·type,·alsook·adenocarcinomen·van·klieren·van·Bartholin·en·ziekte·van·Paget·van·vulva.·Afhankelijk·van·het·type·van·de·tumor·en·het·stadium·van·de·ziekte·kunnen·patiënten·zich·presenteren·met·een·solitaire·massa·van·vulva,·bloeding,·of·(in·geval·van·ziekte·van·Paget)·een·pruritische,·erythemateuze,·eczemateuze·laesie.</Contents> |
| | 468144 | ············</TextSection> |
| | 468145 | ··········</TextSectionList> |
| | 468146 | ········</SummaryInformation> |
| 468196 | ······</SummaryInformationList> | 468147 | ······</SummaryInformationList> |
| 468197 | ····</Disorder> | 468148 | ····</Disorder> |
| 468198 | ····<Disorder·id="25676"> | 468149 | ····<Disorder·id="25676"> |
| ⋮ | ⋮ |
| 468353 | ····<Disorder·id="25670"> | 468304 | ····<Disorder·id="25670"> |
| 468354 | ······<OrphaCode>494418</OrphaCode> | 468305 | ······<OrphaCode>494418</OrphaCode> |
| 468355 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=494418</ExpertLink> | 468306 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=494418</ExpertLink> |
| 468356 | ······<Name·lang="nl">Carcinoom·van·de·vulva</Name> | 468307 | ······<Name·lang="nl">Vulvair·carcinoom</Name> |
| 468357 | ······<DisorderFlagList·count="1"> | 468308 | ······<DisorderFlagList·count="1"> |
| 468358 | ········<DisorderFlag·id="475"> | 468309 | ········<DisorderFlag·id="475"> |
| 468359 | ··········<Value>1</Value> | 468310 | ··········<Value>1</Value> |
| 468360 | ··········<Label></Label> | 468311 | ··········<Label></Label> |
| 468361 | ········</DisorderFlag> | 468312 | ········</DisorderFlag> |
| 468362 | ······</DisorderFlagList> | 468313 | ······</DisorderFlagList> |
| 468363 | ······<SynonymList·count="0"> | 468314 | ······<SynonymList·count="1"> |
| | 468315 | ········<Synonym·lang="nl">Carcinoom·van·vulva</Synonym> |
| 468364 | ······</SynonymList> | 468316 | ······</SynonymList> |
| 468365 | ······<DisorderType·id="21394"> | 468317 | ······<DisorderType·id="21394"> |
| 468366 | ········<Name·lang="nl">Ziekte</Name> | 468318 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 468372 | ······</ExternalReferenceList> | 468324 | ······</ExternalReferenceList> |
| 468373 | ······<DisorderDisorderAssociationList·count="0"> | 468325 | ······<DisorderDisorderAssociationList·count="0"> |
| 468374 | ······</DisorderDisorderAssociationList> | 468326 | ······</DisorderDisorderAssociationList> |
| 468375 | ······<SummaryInformationList·count="0"> | 468327 | ······<SummaryInformationList·count="1"> |
| | 468328 | ········<SummaryInformation·id="128981"·lang="nl"> |
| | 468329 | ··········<TextSectionList·count="1"> |
| | 468330 | ············<TextSection·id="167905"·lang="nl"> |
| | 468331 | ··············<TextSectionType·id="16907"> |
| | 468332 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 468333 | ··············</TextSectionType> |
| | 468334 | ··············<Contents>Een·groep·van·zeldzame·tumoren·van·vulva·bestaande·uit·HPV-geassocieerde·en·HPV-onafhankelijke·plaveiselcelcarcinomen·als·de·meest·frequente·maligne·tumoren·van·vulva,·basaalcelcarcinomen,·adenocarcinomen,·en·carcinomen·van·klier·van·Bartholin.·Afhankelijk·va·het·type·van·de·tumor·en·het·stadium·van·de·ziekte,·kunnen·patiënten·zich·presenteren·met·een·pijnloze·massa·of·ulcus·van·vulva,·of·met·pruritus,·een·brandend·gevoel,·pijn,·of·bloeding.</Contents> |
| | 468335 | ············</TextSection> |
| | 468336 | ··········</TextSectionList> |
| | 468337 | ········</SummaryInformation> |
| 468376 | ······</SummaryInformationList> | 468338 | ······</SummaryInformationList> |
| 468377 | ····</Disorder> | 468339 | ····</Disorder> |
| 468378 | ····<Disorder·id="25671"> | 468340 | ····<Disorder·id="25671"> |
| ⋮ | ⋮ |
| 468499 | ······<DisorderGroup·id="36547"> | 468461 | ······<DisorderGroup·id="36547"> |
| 468500 | ········<Name·lang="nl">Aandoening</Name> | 468462 | ········<Name·lang="nl">Aandoening</Name> |
| 468501 | ······</DisorderGroup> | 468463 | ······</DisorderGroup> |
| 468502 | ······<ExternalReferenceList·count="3"> | 468464 | ······<ExternalReferenceList·count="5"> |
| 468503 | ········<ExternalReference·id="154906"> | 468465 | ········<ExternalReference·id="154906"> |
| 468504 | ··········<Source>OMIM</Source> | 468466 | ··········<Source>OMIM</Source> |
| 468505 | ··········<Reference>275355</Reference> | 468467 | ··········<Reference>275355</Reference> |
| ⋮ | ⋮ |
| 468511 | ············<Name·lang="nl">Gevalideerd</Name> | 468473 | ············<Name·lang="nl">Gevalideerd</Name> |
| 468512 | ··········</DisorderMappingValidationStatus> | 468474 | ··········</DisorderMappingValidationStatus> |
| 468513 | ········</ExternalReference> | 468475 | ········</ExternalReference> |
| 468514 | ········<ExternalReference·id="194014"> | 468476 | ········<ExternalReference·id="200331"> |
| 468515 | ··········<Source>ICD-10</Source> | 468477 | ··········<Source>ICD-10</Source> |
| 468516 | ··········<Reference>C12</Reference> | 468478 | ··········<Reference>C12</Reference> |
| 468517 | ··········<DisorderMappingRelation·id="21541"> | 468479 | ··········<DisorderMappingRelation·id="21541"> |
| ⋮ | ⋮ |
| 468520 | ··········<DisorderMappingICDRelation·id="21604"> | 468482 | ··········<DisorderMappingICDRelation·id="21604"> |
| 468521 | ············<Name·lang="nl">null</Name> | 468483 | ············<Name·lang="nl">null</Name> |
| 468522 | ··········</DisorderMappingICDRelation> | 468484 | ··········</DisorderMappingICDRelation> |
| 468523 | ··········<DisorderMappingValidationStatus·id="21618"> | 468485 | ··········<DisorderMappingValidationStatus·id="21611"> |
| 468524 | ············<Name·lang="nl">Nog·niet·gevalideerd</Name> | 468486 | ············<Name·lang="nl">Gevalideerd</Name> |
| 468525 | ··········</DisorderMappingValidationStatus> | 468487 | ··········</DisorderMappingValidationStatus> |
| 468526 | ········</ExternalReference> | 468488 | ········</ExternalReference> |
| 468527 | ········<ExternalReference·id="194015"> | 468489 | ········<ExternalReference·id="200332"> |
| 468528 | ··········<Source>ICD-10</Source> | 468490 | ··········<Source>ICD-10</Source> |
| 468529 | ··········<Reference>C13.8</Reference> | 468491 | ··········<Reference>C13.8</Reference> |
| 468530 | ··········<DisorderMappingRelation·id="21541"> | 468492 | ··········<DisorderMappingRelation·id="21541"> |
| ⋮ | ⋮ |
| 468533 | ··········<DisorderMappingICDRelation·id="21604"> | 468495 | ··········<DisorderMappingICDRelation·id="21604"> |
| 468534 | ············<Name·lang="nl">null</Name> | 468496 | ············<Name·lang="nl">null</Name> |
| 468535 | ··········</DisorderMappingICDRelation> | 468497 | ··········</DisorderMappingICDRelation> |
| 468536 | ··········<DisorderMappingValidationStatus·id="21618"> | 468498 | ··········<DisorderMappingValidationStatus·id="21611"> |
| 468537 | ············<Name·lang="nl">Nog·niet·gevalideerd</Name> | 468499 | ············<Name·lang="nl">Gevalideerd</Name> |
| | 468500 | ··········</DisorderMappingValidationStatus> |
| | 468501 | ········</ExternalReference> |
| | 468502 | ········<ExternalReference·id="200333"> |
| | 468503 | ··········<Source>ICD-10</Source> |
| | 468504 | ··········<Reference>C13.0</Reference> |
| | 468505 | ··········<DisorderMappingRelation·id="21541"> |
| | 468506 | ············<Name·lang="nl">BTNT·(Bredere·Term·van·ORPHA-code·mapt·naar·een·Nauwere·Term)</Name> |
| | 468507 | ··········</DisorderMappingRelation> |
| | 468508 | ··········<DisorderMappingICDRelation·id="21604"> |
| | 468509 | ············<Name·lang="nl">null</Name> |
| | 468510 | ··········</DisorderMappingICDRelation> |
| | 468511 | ··········<DisorderMappingValidationStatus·id="21611"> |
| | 468512 | ············<Name·lang="nl">Gevalideerd</Name> |
| | 468513 | ··········</DisorderMappingValidationStatus> |
| | 468514 | ········</ExternalReference> |
| | 468515 | ········<ExternalReference·id="200330"> |
| | 468516 | ··········<Source>ICD-10</Source> |
| | 468517 | ··········<Reference>C13.2</Reference> |
| | 468518 | ··········<DisorderMappingRelation·id="21541"> |
| | 468519 | ············<Name·lang="nl">BTNT·(Bredere·Term·van·ORPHA-code·mapt·naar·een·Nauwere·Term)</Name> |
| | 468520 | ··········</DisorderMappingRelation> |
| | 468521 | ··········<DisorderMappingICDRelation·id="21604"> |
| | 468522 | ············<Name·lang="nl">null</Name> |
| | 468523 | ··········</DisorderMappingICDRelation> |
| | 468524 | ··········<DisorderMappingValidationStatus·id="21611"> |
| | 468525 | ············<Name·lang="nl">Gevalideerd</Name> |
| 468538 | ··········</DisorderMappingValidationStatus> | 468526 | ··········</DisorderMappingValidationStatus> |
| 468539 | ········</ExternalReference> | 468527 | ········</ExternalReference> |
| 468540 | ······</ExternalReferenceList> | 468528 | ······</ExternalReferenceList> |
| ⋮ | ⋮ |
| 469191 | ······</ExternalReferenceList> | 469179 | ······</ExternalReferenceList> |
| 469192 | ······<DisorderDisorderAssociationList·count="0"> | 469180 | ······<DisorderDisorderAssociationList·count="0"> |
| 469193 | ······</DisorderDisorderAssociationList> | 469181 | ······</DisorderDisorderAssociationList> |
| 469194 | ······<SummaryInformationList·count="0"> | 469182 | ······<SummaryInformationList·count="1"> |
| | 469183 | ········<SummaryInformation·id="129158"·lang="nl"> |
| | 469184 | ··········<TextSectionList·count="1"> |
| | 469185 | ············<TextSection·id="168086"·lang="nl"> |
| | 469186 | ··············<TextSectionType·id="16907"> |
| | 469187 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 469188 | ··············</TextSectionType> |
| | 469189 | ··············<Contents>Een·zeldzaam,·genetisch·syndroom·van·neurologische·ontwikkelingsachterstand,·gekarakteriseerd·door·milde·intellectuele·achterstand,·ontwikkelingsachterstand,·dysmorfe·gelaatskenmerken,·groei-·en·voedingsproblemen,·hypotonie,·epilepsie,·gedragsproblemen,·en·allerlei·congenitale·anomalieën.</Contents> |
| | 469190 | ············</TextSection> |
| | 469191 | ··········</TextSectionList> |
| | 469192 | ········</SummaryInformation> |
| 469195 | ······</SummaryInformationList> | 469193 | ······</SummaryInformationList> |
| 469196 | ····</Disorder> | 469194 | ····</Disorder> |
| 469197 | ····<Disorder·id="8531"> | 469195 | ····<Disorder·id="8531"> |
| ⋮ | ⋮ |
| 470776 | ······</DisorderFlagList> | 470774 | ······</DisorderFlagList> |
| 470777 | ······<SynonymList·count="4"> | 470775 | ······<SynonymList·count="4"> |
| 470778 | ········<Synonym·lang="nl">Dominante·hyaloïdeoretinale·dystrofie·van·Wagner</Synonym> | 470776 | ········<Synonym·lang="nl">Dominante·hyaloïdeoretinale·dystrofie·van·Wagner</Synonym> |
| | 470777 | ········<Synonym·lang="nl">Syndroom·van·Wagner</Synonym> |
| 470779 | ········<Synonym·lang="nl">VCAN-gerelateerde·vitreoretinopathie</Synonym> | 470778 | ········<Synonym·lang="nl">VCAN-gerelateerde·vitreoretinopathie</Synonym> |
| 470780 | ········<Synonym·lang="nl">Vitreoretinale·degeneratie,·Wagner-type</Synonym> | 470779 | ········<Synonym·lang="nl">Vitreoretinale·degeneratie,·Wagner-type</Synonym> |
| 470781 | ········<Synonym·lang="nl">Wagnersyndroom</Synonym> | |
| 470782 | ······</SynonymList> | 470780 | ······</SynonymList> |
| 470783 | ······<DisorderType·id="21394"> | 470781 | ······<DisorderType·id="21394"> |
| 470784 | ········<Name·lang="nl">Ziekte</Name> | 470782 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 470918 | ······</ExternalReferenceList> | 470916 | ······</ExternalReferenceList> |
| 470919 | ······<DisorderDisorderAssociationList·count="0"> | 470917 | ······<DisorderDisorderAssociationList·count="0"> |
| 470920 | ······</DisorderDisorderAssociationList> | 470918 | ······</DisorderDisorderAssociationList> |
| 470921 | ······<SummaryInformationList·count="0"> | 470919 | ······<SummaryInformationList·count="1"> |
| | 470920 | ········<SummaryInformation·id="129152"·lang="nl"> |
| | 470921 | ··········<TextSectionList·count="1"> |
| | 470922 | ············<TextSection·id="168005"·lang="nl"> |
| | 470923 | ··············<TextSectionType·id="16907"> |
| | 470924 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 470925 | ··············</TextSectionType> |
| | 470926 | ··············<Contents>Een·zeldzame·tumor·van·hoofd·en·hals,·gekarakteriseerd·door·een·maligne·epitheliaal·neoplasma·met·bewijs·van·squameuze·differentiatie,·dat·in·een·deel·van·de·gevallen·kan·ontstaan·in·associatie·met·hoog-risico-HPV.·HPV-positieve·tumoren·komen·vaker·voor·in·de·tongbasis·en·keelamandelen,·en·presenteren·zich·doorgaans·in·een·gevorderd·klinisch·stadium·met·cervicale·lymfadenopathie.·Ze·zijn·geassocieerd·met·een·significant·betere·prognose·dan·HPV-negatieve·tumoren,·die·vaker·voorkomen·in·het·zachte·gehemelte,·zich·manifesteren·als·pijnlijke·keel·en·moeite·met·slikken·of·een·massa·van·hals,·en·optreden·bij·oudere·patiënten.·Roken·en·alcoholconsumptie·zijn·belangrijke·risicofactoren.</Contents> |
| | 470927 | ············</TextSection> |
| | 470928 | ··········</TextSectionList> |
| | 470929 | ········</SummaryInformation> |
| 470922 | ······</SummaryInformationList> | 470930 | ······</SummaryInformationList> |
| 470923 | ····</Disorder> | 470931 | ····</Disorder> |
| 470924 | ····<Disorder·id="8563"> | 470932 | ····<Disorder·id="8563"> |
| ⋮ | ⋮ |
| 473056 | ····<Disorder·id="26030"> | 473064 | ····<Disorder·id="26030"> |
| 473057 | ······<OrphaCode>500464</OrphaCode> | 473065 | ······<OrphaCode>500464</OrphaCode> |
| 473058 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=500464</ExpertLink> | 473066 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=500464</ExpertLink> |
| 473059 | ······<Name·lang="nl">Plaveiselcelcarcinoom·van·de·neusholte·en·neusbijholten</Name> | 473067 | ······<Name·lang="nl">Plaveiselcelcarcinoom·van·neusholte·en·neusbijholten</Name> |
| 473060 | ······<DisorderFlagList·count="1"> | 473068 | ······<DisorderFlagList·count="1"> |
| 473061 | ········<DisorderFlag·id="475"> | 473069 | ········<DisorderFlag·id="475"> |
| 473062 | ··········<Value>1</Value> | 473070 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 473064 | ········</DisorderFlag> | 473072 | ········</DisorderFlag> |
| 473065 | ······</DisorderFlagList> | 473073 | ······</DisorderFlagList> |
| 473066 | ······<SynonymList·count="1"> | 473074 | ······<SynonymList·count="1"> |
| 473067 | ········<Synonym·lang="nl">Plaveiselcelcarcinoom·van·de·neusholte·en·sinussen</Synonym> | 473075 | ········<Synonym·lang="nl">Plaveiselcelcarcinoom·van·neusholte·en·sinussen</Synonym> |
| 473068 | ······</SynonymList> | 473076 | ······</SynonymList> |
| 473069 | ······<DisorderType·id="21394"> | 473077 | ······<DisorderType·id="21394"> |
| 473070 | ········<Name·lang="nl">Ziekte</Name> | 473078 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 473100 | ······</ExternalReferenceList> | 473108 | ······</ExternalReferenceList> |
| 473101 | ······<DisorderDisorderAssociationList·count="0"> | 473109 | ······<DisorderDisorderAssociationList·count="0"> |
| 473102 | ······</DisorderDisorderAssociationList> | 473110 | ······</DisorderDisorderAssociationList> |
| 473103 | ······<SummaryInformationList·count="0"> | 473111 | ······<SummaryInformationList·count="1"> |
| | 473112 | ········<SummaryInformation·id="129007"·lang="nl"> |
| | 473113 | ··········<TextSectionList·count="1"> |
| | 473114 | ············<TextSection·id="167931"·lang="nl"> |
| | 473115 | ··············<TextSectionType·id="16907"> |
| | 473116 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 473117 | ··············</TextSectionType> |
| | 473118 | ··············<Contents>Een·zeldzame·tumor·van·hoofd·en·hals,·gekarakteriseerd·door·een·maligne·epitheliaal·neoplasma·dat·doorgaans·ontstaat·in·de·sinus·maxillaris·(bovenkaaksholte)·of·neusholte,·en·dat·voorkomt·als·een·keratiniserend,·een·niet-keratiniserend,·of·een·spoelcel·(sarcomatoïde)·type.·patiënten·kunnen·zich·presenteren·met·nasale·obstructie,·epistaxis,·rinorroe,·zwelling,·of·(in·verder·gevorderde·stadia)·met·aangezichtspijn·en/of·verlamming,·diplopie·en·proptosis.·Patiënten·met·een·tumor·van·neusbijholte·presenteren·zich·later·en·in·een·hoger·stadium·dan·patiënten·met·een·carcinoom·van·neusholte.·Risicofactor·azijn·roken·en·industriële·blootstellingen.·Hoog-risico·HPV·is·het·vaakst·geassocieerd·met·het·niet-keratiniserend·type.</Contents> |
| | 473119 | ············</TextSection> |
| | 473120 | ··········</TextSectionList> |
| | 473121 | ········</SummaryInformation> |
| 473104 | ······</SummaryInformationList> | 473122 | ······</SummaryInformationList> |
| 473105 | ····</Disorder> | 473123 | ····</Disorder> |
| 473106 | ····<Disorder·id="8559"> | 473124 | ····<Disorder·id="8559"> |
| ⋮ | ⋮ |
| 473900 | ··········<TargetDisorder·id="26073"·cycle="true"/> | 473918 | ··········<TargetDisorder·id="26073"·cycle="true"/> |
| 473901 | ··········<RootDisorder·id="23716"> | 473919 | ··········<RootDisorder·id="23716"> |
| 473902 | ············<OrphaCode>457252</OrphaCode> | 473920 | ············<OrphaCode>457252</OrphaCode> |
| 473903 | ············<Name·lang="nl">Oraal·plaveiselcelcarcinoom·van·de·tong</Name> | 473921 | ············<Name·lang="nl">Plaveiselcelcarcinoom·van·tong</Name> |
| 473904 | ··········</RootDisorder> | 473922 | ··········</RootDisorder> |
| 473905 | ··········<DisorderDisorderAssociationType·id="21471"> | 473923 | ··········<DisorderDisorderAssociationType·id="21471"> |
| 473906 | ············<Name·lang="nl">Verplaatst·naar</Name> | 473924 | ············<Name·lang="nl">Verplaatst·naar</Name> |
| ⋮ | ⋮ |
| 474274 | ······</ExternalReferenceList> | 474292 | ······</ExternalReferenceList> |
| 474275 | ······<DisorderDisorderAssociationList·count="0"> | 474293 | ······<DisorderDisorderAssociationList·count="0"> |
| 474276 | ······</DisorderDisorderAssociationList> | 474294 | ······</DisorderDisorderAssociationList> |
| 474277 | ······<SummaryInformationList·count="0"> | 474295 | ······<SummaryInformationList·count="1"> |
| | 474296 | ········<SummaryInformation·id="129120"·lang="nl"> |
| | 474297 | ··········<TextSectionList·count="1"> |
| | 474298 | ············<TextSection·id="167973"·lang="nl"> |
| | 474299 | ··············<TextSectionType·id="16907"> |
| | 474300 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 474301 | ··············</TextSectionType> |
| | 474302 | ··············<Contents>Een·zeldzame,·genetische·leukodystrofie,·gekarakteriseerd·door·infantiele·aanvang·van·stagnatie·en·regressie·van·motorische·ontwikkeling·en·taalontwikkeling,·wat·resulteert·in·volledig·gebrek·aan·communicatie·en·zinvolle·beweging.·Overige·neurologische·manifestaties·zijn·onder·meer·hypotonie·van·romp,·appendiculaire·spasticiteit,·dystonie,·bleekheid·van·optische·papil,·perifere·neuropathie,·en·neurogene·blaas.·Patiënten·vertonen·ook·multipele·contracturen,·laat·optredende·relatieve·macrocefalie,·kleine·gestalte,·en·faciale·dysmorfie·(met·onder·meer·ruwe·gelaatstrekken,·hellend·voorhoofd,·dikke·wenkbrauwen,·laagstaande·oren,·prominente·neus,·plat·filtrum,·en·prominente·onderlip).·Beeldvorming·van·de·hersenen·in·latere·stadia·toont·diffuse·abnormale·signalen·van·witte·stof·en·ernstige·atrofie.·Biopsie·van·nervus·suralis·toont·verminderde·myelinisatie.</Contents> |
| | 474303 | ············</TextSection> |
| | 474304 | ··········</TextSectionList> |
| | 474305 | ········</SummaryInformation> |
| 474278 | ······</SummaryInformationList> | 474306 | ······</SummaryInformationList> |
| 474279 | ····</Disorder> | 474307 | ····</Disorder> |
| 474280 | ····<Disorder·id="8668"> | 474308 | ····<Disorder·id="8668"> |
| ⋮ | ⋮ |
| 476190 | ······</ExternalReferenceList> | 476218 | ······</ExternalReferenceList> |
| 476191 | ······<DisorderDisorderAssociationList·count="0"> | 476219 | ······<DisorderDisorderAssociationList·count="0"> |
| 476192 | ······</DisorderDisorderAssociationList> | 476220 | ······</DisorderDisorderAssociationList> |
| 476193 | ······<SummaryInformationList·count="0"> | 476221 | ······<SummaryInformationList·count="1"> |
| | 476222 | ········<SummaryInformation·id="129144"·lang="nl"> |
| | 476223 | ··········<TextSectionList·count="1"> |
| | 476224 | ············<TextSection·id="167997"·lang="nl"> |
| | 476225 | ··············<TextSectionType·id="16907"> |
| | 476226 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 476227 | ··············</TextSectionType> |
| | 476228 | ··············<Contents>Een·zeldzame·naevus,·gekarakteriseerd·door·enkel-·of·meervoudige·niet-inflammatoire·verruceuze·huidlaesies·bestaande·uit·keratinocyten,·vaak·aanwezig·vanaf·de·geboorte,·en·met·een·distributie·langs·de·lijnen·van·Blaschko.·Histologisch·vertonen·de·laesies·kenmerken·van·epidermolytische·hyperkeratose,·zoals·perinucleaire·vacuolisatie·van·keratinocyten·van·bovenste·epidermis·met·grove·keratohyaliene·granulen.·Naast·de·huid·zijn·geen·andere·organen·betrokken.·Getroffen·individuen·lopen·risico·een·kind·te·krijgen·met·bulleuze·ichthyosiforme·erytrodermie.</Contents> |
| | 476229 | ············</TextSection> |
| | 476230 | ··········</TextSectionList> |
| | 476231 | ········</SummaryInformation> |
| 476194 | ······</SummaryInformationList> | 476232 | ······</SummaryInformationList> |
| 476195 | ····</Disorder> | 476233 | ····</Disorder> |
| 476196 | ····<Disorder·id="8648"> | 476234 | ····<Disorder·id="8648"> |
| ⋮ | ⋮ |
| 477711 | ····<Disorder·id="8697"> | 477749 | ····<Disorder·id="8697"> |
| 477712 | ······<OrphaCode>721</OrphaCode> | 477750 | ······<OrphaCode>721</OrphaCode> |
| 477713 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=721</ExpertLink> | 477751 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=721</ExpertLink> |
| 477714 | ······<Name·lang="nl">Grijze·bloedplaatjessyndroom</Name> | 477752 | ······<Name·lang="nl">Grijze-bloedplaatjessyndroom</Name> |
| 477715 | ······<DisorderFlagList·count="1"> | 477753 | ······<DisorderFlagList·count="1"> |
| 477716 | ········<DisorderFlag·id="475"> | 477754 | ········<DisorderFlag·id="475"> |
| 477717 | ··········<Value>1</Value> | 477755 | ··········<Value>1</Value> |
| 477718 | ··········<Label></Label> | 477756 | ··········<Label></Label> |
| 477719 | ········</DisorderFlag> | 477757 | ········</DisorderFlag> |
| 477720 | ······</DisorderFlagList> | 477758 | ······</DisorderFlagList> |
| 477721 | ······<SynonymList·count="4"> | 477759 | ······<SynonymList·count="3"> |
| 477722 | ········<Synonym·lang="nl">Alfa-granuledeficiëntie·van·de·bloedplaatjes</Synonym> | |
| 477723 | ········<Synonym·lang="nl">Alfa-storage-pooldeficiëntie</Synonym> | 477760 | ········<Synonym·lang="nl">Alfa-storage-pooldeficiëntie</Synonym> |
| | 477761 | ········<Synonym·lang="nl">Deficiëntie·van·alfa-granulen·in·bloedplaatjes</Synonym> |
| 477724 | ········<Synonym·lang="nl">GPS</Synonym> | 477762 | ········<Synonym·lang="nl">GPS</Synonym> |
| 477725 | ········<Synonym·lang="nl">Grijze·bloedplaatjessyndroom</Synonym> | |
| 477726 | ······</SynonymList> | 477763 | ······</SynonymList> |
| 477727 | ······<DisorderType·id="21394"> | 477764 | ······<DisorderType·id="21394"> |
| 477728 | ········<Name·lang="nl">Ziekte</Name> | 477765 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 478839 | ······</ExternalReferenceList> | 478876 | ······</ExternalReferenceList> |
| 478840 | ······<DisorderDisorderAssociationList·count="0"> | 478877 | ······<DisorderDisorderAssociationList·count="0"> |
| 478841 | ······</DisorderDisorderAssociationList> | 478878 | ······</DisorderDisorderAssociationList> |
| 478842 | ······<SummaryInformationList·count="0"> | 478879 | ······<SummaryInformationList·count="1"> |
| | 478880 | ········<SummaryInformation·id="129116"·lang="nl"> |
| | 478881 | ··········<TextSectionList·count="1"> |
| | 478882 | ············<TextSection·id="167969"·lang="nl"> |
| | 478883 | ··············<TextSectionType·id="16907"> |
| | 478884 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 478885 | ··············</TextSectionType> |
| | 478886 | ··············<Contents>Een·zeldzame·urogenitale·tumor,·gekarakteriseerd·door·stromale·en·epitheliale·componenten·die·cysten·bekleed·met·hyperplastisch·epitheel·vormen·in·een·cellulair·of·sarcomatoïd·stroma.·De·tumoren·kunnen·klinisch·goed-·of·kwaadaardig·zijn,·en·hebben·de·neiging·terug·te·keren·na·transurethrale·excisie.·Er·treedt·metastase·op·naar·long,·bot·en·lever.·Patiënten·kunnen·zich·presenteren·met·symptomen·van·obstructie·van·mictie,·dysurie,·hematurie,·urineretentie,·of·een·palpabele·abdominale·massa.·De·prostaat·is·voelbaar·vergroot,·maar·voelt·zacht·en·sponzig·aan.</Contents> |
| | 478887 | ············</TextSection> |
| | 478888 | ··········</TextSectionList> |
| | 478889 | ········</SummaryInformation> |
| 478843 | ······</SummaryInformationList> | 478890 | ······</SummaryInformationList> |
| 478844 | ····</Disorder> | 478891 | ····</Disorder> |
| 478845 | ····<Disorder·id="8682"> | 478892 | ····<Disorder·id="8682"> |
| ⋮ | ⋮ |
| 481068 | ······</ExternalReferenceList> | 481115 | ······</ExternalReferenceList> |
| 481069 | ······<DisorderDisorderAssociationList·count="0"> | 481116 | ······<DisorderDisorderAssociationList·count="0"> |
| 481070 | ······</DisorderDisorderAssociationList> | 481117 | ······</DisorderDisorderAssociationList> |
| 481071 | ······<SummaryInformationList·count="0"> | 481118 | ······<SummaryInformationList·count="1"> |
| | 481119 | ········<SummaryInformation·id="128978"·lang="nl"> |
| | 481120 | ··········<TextSectionList·count="1"> |
| | 481121 | ············<TextSection·id="167902"·lang="nl"> |
| | 481122 | ··············<TextSectionType·id="16907"> |
| | 481123 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 481124 | ··············</TextSectionType> |
| | 481125 | ··············<Contents>Een·zeldzaam·syndroom·van·artrogrypose,·gekarakteriseerd·door·arthrogryposis·multiplex·congenita·met·contracturen·van·meerdere·gewrichten·van·bovenste·en·onderste·ledematen,·camptodactylie·van·vingers·en·tenen,·skeletafwijkingen·zoals·scoliose·en·trechterborst,·alsook·variabele·spraakachterstand,·motorische·achterstand·en·hypotonie.·Faciale·dysmorfie·omvat·onder·meer·lange·wimpers,·periorbitale·volheid,·ptosis,·epicanthusplooien,·hoog·gebogen/gespleten·verhemelte,·en·micrognathie.</Contents> |
| | 481126 | ············</TextSection> |
| | 481127 | ··········</TextSectionList> |
| | 481128 | ········</SummaryInformation> |
| 481072 | ······</SummaryInformationList> | 481129 | ······</SummaryInformationList> |
| 481073 | ····</Disorder> | 481130 | ····</Disorder> |
| 481074 | ····<Disorder·id="25920"> | 481131 | ····<Disorder·id="25920"> |
| ⋮ | ⋮ |
| 481672 | ······</ExternalReferenceList> | 481729 | ······</ExternalReferenceList> |
| 481673 | ······<DisorderDisorderAssociationList·count="0"> | 481730 | ······<DisorderDisorderAssociationList·count="0"> |
| 481674 | ······</DisorderDisorderAssociationList> | 481731 | ······</DisorderDisorderAssociationList> |
| 481675 | ······<SummaryInformationList·count="0"> | 481732 | ······<SummaryInformationList·count="1"> |
| | 481733 | ········<SummaryInformation·id="128980"·lang="nl"> |
| | 481734 | ··········<TextSectionList·count="1"> |
| | 481735 | ············<TextSection·id="167904"·lang="nl"> |
| | 481736 | ··············<TextSectionType·id="16907"> |
| | 481737 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 481738 | ··············</TextSectionType> |
| | 481739 | ··············<Contents>Een·zeldzaam·overgroeisyndroom·met·betrokkenheid·van·skelet,·gekarakteriseerd·door·een·lange·en·tengere·gestalte·en·multipele·skeletmanifestaties,·zoals·scoliose,·macrodactylie·van·de·grote·tenen,·arachnodactylie·van·vingers·en·tenen,·camptodactylie·en·clinodactylie,·en·progressieve·valgusmisvormingen·van·de·voeten.·Epimetafysaire·dysplasie,·kromstand·van·tibiae,·en·dysmorfe·gelaatskenmerken·(hypertelorisme,·hoog·verhemelte,·of·micrognathie),·alsook·dilatatie·van·aortawortel·en·navelbreuk·werden·ook·reeds·gerapporteerd.</Contents> |
| | 481740 | ············</TextSection> |
| | 481741 | ··········</TextSectionList> |
| | 481742 | ········</SummaryInformation> |
| 481676 | ······</SummaryInformationList> | 481743 | ······</SummaryInformationList> |
| 481677 | ····</Disorder> | 481744 | ····</Disorder> |
| 481678 | ····<Disorder·id="8580"> | 481745 | ····<Disorder·id="8580"> |
| ⋮ | ⋮ |
| 483099 | ····<Disorder·id="8618"> | 483166 | ····<Disorder·id="8618"> |
| 483100 | ······<OrphaCode>658</OrphaCode> | 483167 | ······<OrphaCode>658</OrphaCode> |
| 483101 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=658</ExpertLink> | 483168 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=658</ExpertLink> |
| 483102 | ······<Name·lang="nl">Niet-histaminisch·angio-oedeem</Name> | 483169 | ······<Name·lang="nl">Niet-histamine-geïnduceerd·angio-oedeem</Name> |
| 483103 | ······<DisorderFlagList·count="1"> | 483170 | ······<DisorderFlagList·count="1"> |
| 483104 | ········<DisorderFlag·id="475"> | 483171 | ········<DisorderFlag·id="475"> |
| 483105 | ··········<Value>1</Value> | 483172 | ··········<Value>1</Value> |
| 483106 | ··········<Label></Label> | 483173 | ··········<Label></Label> |
| 483107 | ········</DisorderFlag> | 483174 | ········</DisorderFlag> |
| 483108 | ······</DisorderFlagList> | 483175 | ······</DisorderFlagList> |
| 483109 | ······<SynonymList·count="4"> | 483176 | ······<SynonymList·count="2"> |
| 483110 | ········<Synonym·lang="nl">Angioneurotisch·oedeem</Synonym> | 483177 | ········<Synonym·lang="nl">Angioneurotisch·oedeem</Synonym> |
| 483111 | ········<Synonym·lang="nl">Bradykinine-geïnduceerd·angio-oedeem</Synonym> | 483178 | ········<Synonym·lang="nl">Bradykinine-geïnduceerd·angio-oedeem</Synonym> |
| 483112 | ········<Synonym·lang="nl">Niet-histamine-geïnduceerd·angio-oedeem</Synonym> | |
| 483113 | ········<Synonym·lang="nl">Niet-histaminisch-geïnduceerd·angio-oedeem</Synonym> | |
| 483114 | ······</SynonymList> | 483179 | ······</SynonymList> |
| 483115 | ······<DisorderType·id="21436"> | 483180 | ······<DisorderType·id="21436"> |
| 483116 | ········<Name·lang="nl">Group·of·phenomes</Name> | 483181 | ········<Name·lang="nl">Group·of·phenomes</Name> |
| ⋮ | ⋮ |
| 484396 | ····<Disorder·id="25322"> | 484461 | ····<Disorder·id="25322"> |
| 484397 | ······<OrphaCode>485631</OrphaCode> | 484462 | ······<OrphaCode>485631</OrphaCode> |
| 484398 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=485631</ExpertLink> | 484463 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=485631</ExpertLink> |
| 484399 | ······<Name·lang="nl">Congenitaal·galzuursynthesedefect</Name> | 484464 | ······<Name·lang="nl">Congenitaal·defect·van·galzuursynthese</Name> |
| 484400 | ······<DisorderFlagList·count="1"> | 484465 | ······<DisorderFlagList·count="1"> |
| 484401 | ········<DisorderFlag·id="475"> | 484466 | ········<DisorderFlag·id="475"> |
| 484402 | ··········<Value>1</Value> | 484467 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 484416 | ······</ExternalReferenceList> | 484481 | ······</ExternalReferenceList> |
| 484417 | ······<DisorderDisorderAssociationList·count="0"> | 484482 | ······<DisorderDisorderAssociationList·count="0"> |
| 484418 | ······</DisorderDisorderAssociationList> | 484483 | ······</DisorderDisorderAssociationList> |
| 484419 | ······<SummaryInformationList·count="1"> | 484484 | ······<SummaryInformationList·count="0"> |
| 484420 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 484421 | ··········<TextSectionList·count="0"> | |
| 484422 | ··········</TextSectionList> | |
| 484423 | ··········<TextAuto> | |
| 484424 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 484425 | ··········</TextAuto> | |
| 484426 | ········</SummaryInformation> | |
| 484427 | ······</SummaryInformationList> | 484485 | ······</SummaryInformationList> |
| 484428 | ····</Disorder> | 484486 | ····</Disorder> |
| 484429 | ····<Disorder·id="25312"> | 484487 | ····<Disorder·id="25312"> |
| ⋮ | ⋮ |
| 487908 | ······</ExternalReferenceList> | 487966 | ······</ExternalReferenceList> |
| 487909 | ······<DisorderDisorderAssociationList·count="0"> | 487967 | ······<DisorderDisorderAssociationList·count="0"> |
| 487910 | ······</DisorderDisorderAssociationList> | 487968 | ······</DisorderDisorderAssociationList> |
| 487911 | ······<SummaryInformationList·count="0"> | 487969 | ······<SummaryInformationList·count="1"> |
| | 487970 | ········<SummaryInformation·id="129146"·lang="nl"> |
| | 487971 | ··········<TextSectionList·count="1"> |
| | 487972 | ············<TextSection·id="167999"·lang="nl"> |
| | 487973 | ··············<TextSectionType·id="16907"> |
| | 487974 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 487975 | ··············</TextSectionType> |
| | 487976 | ··············<Contents>Een·zeldzaam,·genetisch·syndroom·met·multipele·congenitale·anomalieën/dysmorfie,·gekarakteriseerd·door·postnatale·lange·gestalte·met·lange·handen·en·voeten,·scoliose,·typische·dysmorfe·gelaatskenmerken·(prominent·voorhoofd,·proptosis,·schuin·naar·beneden·hellende·ooglidspleten,·brede·neusbrug,·dunne·bovenlip,·en·puntige·kin),·hyperelastische,·dunne·en·fragiele·huid,·lipodystrofie,·en·variabele·intellectuele·achterstand·en·neurologische·achteruitgang.·Bijkomende·manifestaties·die·werden·gerapporteerd,·zijn·onder·meer·craniosynostose,·camptodactylie,·progressieve·flexiecontracturen,·gewrichtsluxatie,·en·cerebrovasculaire·complicaties.·MRI·van·hersenen·toont·mogelijk·omvangrijke·laesies·van·periventriculaire·witte·stof·en·andere·anomalieën.</Contents> |
| | 487977 | ············</TextSection> |
| | 487978 | ··········</TextSectionList> |
| | 487979 | ········</SummaryInformation> |
| 487912 | ······</SummaryInformationList> | 487980 | ······</SummaryInformationList> |
| 487913 | ····</Disorder> | 487981 | ····</Disorder> |
| 487914 | ····<Disorder·id="25168"> | 487982 | ····<Disorder·id="25168"> |
| ⋮ | ⋮ |
| 487973 | ····<Disorder·id="25178"> | 488041 | ····<Disorder·id="25178"> |
| 487974 | ······<OrphaCode>478664</OrphaCode> | 488042 | ······<OrphaCode>478664</OrphaCode> |
| 487975 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=478664</ExpertLink> | 488043 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=478664</ExpertLink> |
| 487976 | ······<Name·lang="nl">Congenitale·ongevoeligheid·voor·pijn·-·hypohidrose-syndroom</Name> | 488044 | ······<Name·lang="nl">Erfelijke·sensorische·en·autonome·neuropathie·type·8</Name> |
| 487977 | ······<DisorderFlagList·count="1"> | 488045 | ······<DisorderFlagList·count="1"> |
| 487978 | ········<DisorderFlag·id="475"> | 488046 | ········<DisorderFlag·id="475"> |
| 487979 | ··········<Value>1</Value> | 488047 | ··········<Value>1</Value> |
| 487980 | ··········<Label></Label> | 488048 | ··········<Label></Label> |
| 487981 | ········</DisorderFlag> | 488049 | ········</DisorderFlag> |
| 487982 | ······</DisorderFlagList> | 488050 | ······</DisorderFlagList> |
| 487983 | ······<SynonymList·count="4"> | 488051 | ······<SynonymList·count="2"> |
| 487984 | ········<Synonym·lang="nl">CIP-hypohidrose-syndroom</Synonym> | |
| 487985 | ········<Synonym·lang="nl">Erfelijke·sensorische·en·autonome·neuropathie·type·8</Synonym> | |
| 487986 | ········<Synonym·lang="nl">Erfelijke·sensorische·en·autonome·neuropathie·type·VIII</Synonym> | 488052 | ········<Synonym·lang="nl">Erfelijke·sensorische·en·autonome·neuropathie·type·VIII</Synonym> |
| 487987 | ········<Synonym·lang="nl">HSAN8</Synonym> | 488053 | ········<Synonym·lang="nl">HSAN8</Synonym> |
| 487988 | ······</SynonymList> | 488054 | ······</SynonymList> |
| ⋮ | ⋮ |
| 488661 | ······</ExternalReferenceList> | 488727 | ······</ExternalReferenceList> |
| 488662 | ······<DisorderDisorderAssociationList·count="0"> | 488728 | ······<DisorderDisorderAssociationList·count="0"> |
| 488663 | ······</DisorderDisorderAssociationList> | 488729 | ······</DisorderDisorderAssociationList> |
| 488664 | ······<SummaryInformationList·count="1"> | 488730 | ······<SummaryInformationList·count="0"> |
| 488665 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 488666 | ··········<TextSectionList·count="0"> | |
| 488667 | ··········</TextSectionList> | |
| 488668 | ··········<TextAuto> | |
| 488669 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 488670 | ··········</TextAuto> | |
| 488671 | ········</SummaryInformation> | |
| 488672 | ······</SummaryInformationList> | 488731 | ······</SummaryInformationList> |
| 488673 | ····</Disorder> | 488732 | ····</Disorder> |
| 488674 | ····<Disorder·id="25148"> | 488733 | ····<Disorder·id="25148"> |
| ⋮ | ⋮ |
| 488693 | ······</ExternalReferenceList> | 488752 | ······</ExternalReferenceList> |
| 488694 | ······<DisorderDisorderAssociationList·count="0"> | 488753 | ······<DisorderDisorderAssociationList·count="0"> |
| 488695 | ······</DisorderDisorderAssociationList> | 488754 | ······</DisorderDisorderAssociationList> |
| 488696 | ······<SummaryInformationList·count="1"> | 488755 | ······<SummaryInformationList·count="0"> |
| 488697 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 488698 | ··········<TextSectionList·count="0"> | |
| 488699 | ··········</TextSectionList> | |
| 488700 | ··········<TextAuto> | |
| 488701 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 488702 | ··········</TextAuto> | |
| 488703 | ········</SummaryInformation> | |
| 488704 | ······</SummaryInformationList> | 488756 | ······</SummaryInformationList> |
| 488705 | ····</Disorder> | 488757 | ····</Disorder> |
| 488706 | ····<Disorder·id="25150"> | 488758 | ····<Disorder·id="25150"> |
| ⋮ | ⋮ |
| 488777 | ······</ExternalReferenceList> | 488829 | ······</ExternalReferenceList> |
| 488778 | ······<DisorderDisorderAssociationList·count="0"> | 488830 | ······<DisorderDisorderAssociationList·count="0"> |
| 488779 | ······</DisorderDisorderAssociationList> | 488831 | ······</DisorderDisorderAssociationList> |
| 488780 | ······<SummaryInformationList·count="1"> | 488832 | ······<SummaryInformationList·count="0"> |
| 488781 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 488782 | ··········<TextSectionList·count="0"> | |
| 488783 | ··········</TextSectionList> | |
| 488784 | ··········<TextAuto> | |
| 488785 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 488786 | ··········</TextAuto> | |
| 488787 | ········</SummaryInformation> | |
| 488788 | ······</SummaryInformationList> | 488833 | ······</SummaryInformationList> |
| 488789 | ····</Disorder> | 488834 | ····</Disorder> |
| 488790 | ····<Disorder·id="25091"> | 488835 | ····<Disorder·id="25091"> |
| ⋮ | ⋮ |
| 488845 | ······</ExternalReferenceList> | 488890 | ······</ExternalReferenceList> |
| 488846 | ······<DisorderDisorderAssociationList·count="0"> | 488891 | ······<DisorderDisorderAssociationList·count="0"> |
| 488847 | ······</DisorderDisorderAssociationList> | 488892 | ······</DisorderDisorderAssociationList> |
| 488848 | ······<SummaryInformationList·count="1"> | 488893 | ······<SummaryInformationList·count="0"> |
| 488849 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 488850 | ··········<TextSectionList·count="0"> | |
| 488851 | ··········</TextSectionList> | |
| 488852 | ··········<TextAuto> | |
| 488853 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 488854 | ··········</TextAuto> | |
| 488855 | ········</SummaryInformation> | |
| 488856 | ······</SummaryInformationList> | 488894 | ······</SummaryInformationList> |
| 488857 | ····</Disorder> | 488895 | ····</Disorder> |
| 488858 | ····<Disorder·id="25089"> | 488896 | ····<Disorder·id="25089"> |
| ⋮ | ⋮ |
| 488939 | ······</ExternalReferenceList> | 488977 | ······</ExternalReferenceList> |
| 488940 | ······<DisorderDisorderAssociationList·count="0"> | 488978 | ······<DisorderDisorderAssociationList·count="0"> |
| 488941 | ······</DisorderDisorderAssociationList> | 488979 | ······</DisorderDisorderAssociationList> |
| 488942 | ······<SummaryInformationList·count="1"> | 488980 | ······<SummaryInformationList·count="0"> |
| 488943 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 488944 | ··········<TextSectionList·count="0"> | |
| 488945 | ··········</TextSectionList> | |
| 488946 | ··········<TextAuto> | |
| 488947 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 488948 | ··········</TextAuto> | |
| 488949 | ········</SummaryInformation> | |
| 488950 | ······</SummaryInformationList> | 488981 | ······</SummaryInformationList> |
| 488951 | ····</Disorder> | 488982 | ····</Disorder> |
| 488952 | ····<Disorder·id="25093"> | 488983 | ····<Disorder·id="25093"> |
| ⋮ | ⋮ |
| 489922 | ······</ExternalReferenceList> | 489953 | ······</ExternalReferenceList> |
| 489923 | ······<DisorderDisorderAssociationList·count="0"> | 489954 | ······<DisorderDisorderAssociationList·count="0"> |
| 489924 | ······</DisorderDisorderAssociationList> | 489955 | ······</DisorderDisorderAssociationList> |
| 489925 | ······<SummaryInformationList·count="0"> | 489956 | ······<SummaryInformationList·count="1"> |
| | 489957 | ········<SummaryInformation·id="129145"·lang="nl"> |
| | 489958 | ··········<TextSectionList·count="1"> |
| | 489959 | ············<TextSection·id="167998"·lang="nl"> |
| | 489960 | ··············<TextSectionType·id="16907"> |
| | 489961 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 489962 | ··············</TextSectionType> |
| | 489963 | ··············<Contents>Een·zeldzame·frontonasale·dysplasie,·gekarakteriseerd·door·een·craniofaciaal·fenotype·bestaande·uit·boller·voorhoofd·met·hoge·voorste·haarlijn,·ptosis,·hypertelorisme,·epicanthus·inversus,·platte·neusbrug,·en·brede·neuspunt.·Grote·voorste·fontanel,·synostose·van·sutura·sagittalis,·en·anomalieën·van·schedelbasis·werden·ook·reeds·beschreven.</Contents> |
| | 489964 | ············</TextSection> |
| | 489965 | ··········</TextSectionList> |
| | 489966 | ········</SummaryInformation> |
| 489926 | ······</SummaryInformationList> | 489967 | ······</SummaryInformationList> |
| 489927 | ····</Disorder> | 489968 | ····</Disorder> |
| 489928 | ····<Disorder·id="25400"> | 489969 | ····<Disorder·id="25400"> |
| ⋮ | ⋮ |
| 491121 | ··············<TextSectionType·id="16907"> | 491162 | ··············<TextSectionType·id="16907"> |
| 491122 | ················<Name·lang="nl">Definitie·ziekte</Name> | 491163 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 491123 | ··············</TextSectionType> | 491164 | ··············</TextSectionType> |
| 491124 | ··············<Contents>De·ziekte·van·Tangier·(TD)·is·een·zeldzame·stoornis·van·het·lipoproteïnemetabolisme·dat·biochemisch·gekenmerkt·wordt·door·een·bijna·volledige·afwezigheid·van·high-densitiy-lipoproteïnen·(HDL)·in·het·plasma,·en·klinisch·door·vergroting·van·de·lever,·milt,·lymfeklieren·en·keelamandelen,·samen·met·perifere·neuropathie·bij·kinderen·en·adolescenten,·en,·occasioneel,·cardiovasculaire·ziekten·bij·volwassenen.</Contents> | 491165 | ··············<Contents>Een·zeldzame,·genetische·neurometabole·aandoening,·biochemisch·gekarakteriseerd·door·nagenoeg·volledige·afwezigheid·van·lipoproteïnen·met·hoge·densiteit·(HDL)·in·plasma,·en·klinisch·door·vergroting·van·lever,·milt,·lymfeklieren·en·keelamandelen,·samen·met·multifocale·perifere·neuropathie,·aandoeningen·van·cornea·en·van·huid·en·nagels,·en·soms·cardiovasculaire·ziekte.</Contents> |
| 491125 | ············</TextSection> | 491166 | ············</TextSection> |
| 491126 | ··········</TextSectionList> | 491167 | ··········</TextSectionList> |
| 491127 | ········</SummaryInformation> | 491168 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 492629 | ····<Disorder·id="10987"> | 492670 | ····<Disorder·id="10987"> |
| 492630 | ······<OrphaCode>71212</OrphaCode> | 492671 | ······<OrphaCode>71212</OrphaCode> |
| 492631 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=71212</ExpertLink> | 492672 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=71212</ExpertLink> |
| 492632 | ······<Name·lang="nl">Hyperinsulinisme·als·gevolg·van·korte·keten·3-hydroxylacyl-CoA-dehydrogenasedeficiëntie</Name> | 492673 | ······<Name·lang="nl">Hyperinsulinisme·door·deficiëntie·van·korte-keten-3-hydroxylacyl-CoA-dehydrogenase</Name> |
| 492633 | ······<DisorderFlagList·count="1"> | 492674 | ······<DisorderFlagList·count="1"> |
| 492634 | ········<DisorderFlag·id="475"> | 492675 | ········<DisorderFlag·id="475"> |
| 492635 | ··········<Value>1</Value> | 492676 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 492637 | ········</DisorderFlag> | 492678 | ········</DisorderFlag> |
| 492638 | ······</DisorderFlagList> | 492679 | ······</DisorderFlagList> |
| 492639 | ······<SynonymList·count="4"> | 492680 | ······<SynonymList·count="4"> |
| 492640 | ········<Synonym·lang="nl">Hyperinsulinemische·hypoglycemie·als·gevolg·van·korte·keten·3-hydroxylacyl-CoA-dehydrogenasedeficiëntie</Synonym> | 492681 | ········<Synonym·lang="nl">Hyperinsulinemische·hypoglycemie·door·deficiëntie·van·korte-keten-3-hydroxylacyl-CoA-dehydrogenase</Synonym> |
| 492641 | ········<Synonym·lang="nl">Hyperinsulinisme·als·gevolg·van·SCHAD-deficiëntie</Synonym> | 492682 | ········<Synonym·lang="nl">Hyperinsulinisme·door·deficiëntie·van·SCHAD</Synonym> |
| 492642 | ········<Synonym·lang="nl">Hyperinsulinisme·als·gevolg·van·glutamodehydrogenasedeficiëntie</Synonym> | 492683 | ········<Synonym·lang="nl">Hyperinsulinisme·door·deficiëntie·van·glutamodehydrogenase</Synonym> |
| 492643 | ········<Synonym·lang="nl">SCHAD-deficiëntie</Synonym> | 492684 | ········<Synonym·lang="nl">SCHAD-deficiëntie</Synonym> |
| 492644 | ······</SynonymList> | 492685 | ······</SynonymList> |
| 492645 | ······<DisorderType·id="21394"> | 492686 | ······<DisorderType·id="21394"> |
| ⋮ | ⋮ |
| 496619 | ········</DisorderFlag> | 496660 | ········</DisorderFlag> |
| 496620 | ······</DisorderFlagList> | 496661 | ······</DisorderFlagList> |
| 496621 | ······<SynonymList·count="3"> | 496662 | ······<SynonymList·count="3"> |
| 496622 | ········<Synonym·lang="nl">3-methylglutaconyl-CoA-hydratasedeficiëntie</Synonym> | 496663 | ········<Synonym·lang="nl">Deficiëntie·van·3-methylglutaconyl-CoA-hydratase</Synonym> |
| 496623 | ········<Synonym·lang="nl">3MG-CoA-hydratasedeficiëntie</Synonym> | 496664 | ········<Synonym·lang="nl">Deficiëntie·van·3MG-CoA-hydratase</Synonym> |
| 496624 | ········<Synonym·lang="nl">MGA1</Synonym> | 496665 | ········<Synonym·lang="nl">MGA1</Synonym> |
| 496625 | ······</SynonymList> | 496666 | ······</SynonymList> |
| 496626 | ······<DisorderType·id="21394"> | 496667 | ······<DisorderType·id="21394"> |
| ⋮ | ⋮ |
| 497479 | ······</ExternalReferenceList> | 497520 | ······</ExternalReferenceList> |
| 497480 | ······<DisorderDisorderAssociationList·count="0"> | 497521 | ······<DisorderDisorderAssociationList·count="0"> |
| 497481 | ······</DisorderDisorderAssociationList> | 497522 | ······</DisorderDisorderAssociationList> |
| 497482 | ······<SummaryInformationList·count="0"> | 497523 | ······<SummaryInformationList·count="1"> |
| | 497524 | ········<SummaryInformation·id="129002"·lang="nl"> |
| | 497525 | ··········<TextSectionList·count="1"> |
| | 497526 | ············<TextSection·id="167926"·lang="nl"> |
| | 497527 | ··············<TextSectionType·id="16907"> |
| | 497528 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 497529 | ··············</TextSectionType> |
| | 497530 | ··············<Contents>Een·zeldzame·neoplastische·aandoening,·gekarakteriseerd·door·een·gelokaliseerde,·unifocale,·laaggradige·tumor·bestaande·uit·rijpe·mestcellen,·zonder·bewijs·van·systemische·mastocytose·of·huidlaesies.·De·tumor·ontstaat·doorgaans·in·long·en·toont·een·niet-destructief·groeipatroon.</Contents> |
| | 497531 | ············</TextSection> |
| | 497532 | ··········</TextSectionList> |
| | 497533 | ········</SummaryInformation> |
| 497483 | ······</SummaryInformationList> | 497534 | ······</SummaryInformationList> |
| 497484 | ····</Disorder> | 497535 | ····</Disorder> |
| 497485 | ····<Disorder·id="10897"> | 497536 | ····<Disorder·id="10897"> |
| ⋮ | ⋮ |
| 498056 | ····<Disorder·id="10887"> | 498107 | ····<Disorder·id="10887"> |
| 498057 | ······<OrphaCode>66629</OrphaCode> | 498108 | ······<OrphaCode>66629</OrphaCode> |
| 498058 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=66629</ExpertLink> | 498109 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=66629</ExpertLink> |
| 498059 | ······<Name·lang="nl">Goldberg-Shprintzen·megacolonsyndroom</Name> | 498110 | ······<Name·lang="nl">Megacolonsyndroom·van·Goldberg-Shprintzen</Name> |
| 498060 | ······<DisorderFlagList·count="1"> | 498111 | ······<DisorderFlagList·count="1"> |
| 498061 | ········<DisorderFlag·id="475"> | 498112 | ········<DisorderFlag·id="475"> |
| 498062 | ··········<Value>1</Value> | 498113 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 498065 | ······</DisorderFlagList> | 498116 | ······</DisorderFlagList> |
| 498066 | ······<SynonymList·count="2"> | 498117 | ······<SynonymList·count="2"> |
| 498067 | ········<Synonym·lang="nl">GOSHS</Synonym> | 498118 | ········<Synonym·lang="nl">GOSHS</Synonym> |
| 498068 | ········<Synonym·lang="nl">Megacolon·-·microcefalie</Synonym> | 498119 | ········<Synonym·lang="nl">Megacolon·-·microcefalie-syndroom</Synonym> |
| 498069 | ······</SynonymList> | 498120 | ······</SynonymList> |
| 498070 | ······<DisorderType·id="21401"> | 498121 | ······<DisorderType·id="21401"> |
| 498071 | ········<Name·lang="nl">Malformatiesyndroom</Name> | 498122 | ········<Name·lang="nl">Malformatiesyndroom</Name> |
| ⋮ | ⋮ |
| 498206 | ··········<Label></Label> | 498257 | ··········<Label></Label> |
| 498207 | ········</DisorderFlag> | 498258 | ········</DisorderFlag> |
| 498208 | ······</DisorderFlagList> | 498259 | ······</DisorderFlagList> |
| 498209 | ······<SynonymList·count="5"> | 498260 | ······<SynonymList·count="6"> |
| 498210 | ········<Synonym·lang="nl">Diffuus·type·GCT</Synonym> | 498261 | ········<Synonym·lang="nl">Diffuus·type·GCT</Synonym> |
| 498211 | ········<Synonym·lang="nl">Diffuus·type·reusceltumor</Synonym> | 498262 | ········<Synonym·lang="nl">Diffuus·type·reusceltumor</Synonym> |
| | 498263 | ········<Synonym·lang="nl">Synoviitis·villonodularis·pigmentosa</Synonym> |
| 498212 | ········<Synonym·lang="nl">TGCT</Synonym> | 498264 | ········<Synonym·lang="nl">TGCT</Synonym> |
| 498213 | ········<Synonym·lang="nl">TSGCT</Synonym> | 498265 | ········<Synonym·lang="nl">TSGCT</Synonym> |
| 498214 | ········<Synonym·lang="nl">Tenosynoviale·reusceltumor</Synonym> | 498266 | ········<Synonym·lang="nl">Tenosynoviale·reusceltumor</Synonym> |
| ⋮ | ⋮ |
| 498534 | ····<Disorder·id="10880"> | 498586 | ····<Disorder·id="10880"> |
| 498535 | ······<OrphaCode>65798</OrphaCode> | 498587 | ······<OrphaCode>65798</OrphaCode> |
| 498536 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=65798</ExpertLink> | 498588 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=65798</ExpertLink> |
| 498537 | ······<Name·lang="nl">Goodmansyndroom</Name> | 498589 | ······<Name·lang="nl">Syndroom·van·Goodman</Name> |
| 498538 | ······<DisorderFlagList·count="2"> | 498590 | ······<DisorderFlagList·count="2"> |
| 498539 | ········<DisorderFlag·id="460"> | 498591 | ········<DisorderFlag·id="460"> |
| 498540 | ··········<Value>512</Value> | 498592 | ··········<Value>512</Value> |
| ⋮ | ⋮ |
| 498957 | ····<Disorder·id="10866"> | 499009 | ····<Disorder·id="10866"> |
| 498958 | ······<OrphaCode>65284</OrphaCode> | 499010 | ······<OrphaCode>65284</OrphaCode> |
| 498959 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=65284</ExpertLink> | 499011 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=65284</ExpertLink> |
| 498960 | ······<Name·lang="nl">Biotine-thiamine-responsieve·ziekte·van·de·basale·ganglia</Name> | 499012 | ······<Name·lang="nl">Biotine-thiamine-responsieve·ziekte·van·basale·ganglia</Name> |
| 498961 | ······<DisorderFlagList·count="1"> | 499013 | ······<DisorderFlagList·count="1"> |
| 498962 | ········<DisorderFlag·id="475"> | 499014 | ········<DisorderFlag·id="475"> |
| 498963 | ··········<Value>1</Value> | 499015 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 498967 | ······<SynonymList·count="3"> | 499019 | ······<SynonymList·count="3"> |
| 498968 | ········<Synonym·lang="nl">BBGD</Synonym> | 499020 | ········<Synonym·lang="nl">BBGD</Synonym> |
| 498969 | ········<Synonym·lang="nl">BTBGD</Synonym> | 499021 | ········<Synonym·lang="nl">BTBGD</Synonym> |
| 498970 | ········<Synonym·lang="nl">Biotine-responsieve·ziekte·van·de·basale·ganglia·/·BBGD·/·BTBGD</Synonym> | 499022 | ········<Synonym·lang="nl">Biotine-responsieve·ziekte·van·basale·ganglia</Synonym> |
| 498971 | ······</SynonymList> | 499023 | ······</SynonymList> |
| 498972 | ······<DisorderType·id="21394"> | 499024 | ······<DisorderType·id="21394"> |
| 498973 | ········<Name·lang="nl">Ziekte</Name> | 499025 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 500245 | ······</ExternalReferenceList> | 500297 | ······</ExternalReferenceList> |
| 500246 | ······<DisorderDisorderAssociationList·count="0"> | 500298 | ······<DisorderDisorderAssociationList·count="0"> |
| 500247 | ······</DisorderDisorderAssociationList> | 500299 | ······</DisorderDisorderAssociationList> |
| 500248 | ······<SummaryInformationList·count="1"> | 500300 | ······<SummaryInformationList·count="0"> |
| 500249 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 500250 | ··········<TextSectionList·count="0"> | |
| 500251 | ··········</TextSectionList> | |
| 500252 | ··········<TextAuto> | |
| 500253 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 500254 | ··········</TextAuto> | |
| 500255 | ········</SummaryInformation> | |
| 500256 | ······</SummaryInformationList> | 500301 | ······</SummaryInformationList> |
| 500257 | ····</Disorder> | 500302 | ····</Disorder> |
| 500258 | ····<Disorder·id="10851"> | 500303 | ····<Disorder·id="10851"> |
| ⋮ | ⋮ |
| 501946 | ····<Disorder·id="10843"> | 501991 | ····<Disorder·id="10843"> |
| 501947 | ······<OrphaCode>64739</OrphaCode> | 501992 | ······<OrphaCode>64739</OrphaCode> |
| 501948 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=64739</ExpertLink> | 501993 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=64739</ExpertLink> |
| 501949 | ······<Name·lang="nl">Ovariumhyperstimulatiesyndroom</Name> | 501994 | ······<Name·lang="nl">Ovarieel·hyperstimulatiesyndroom</Name> |
| 501950 | ······<DisorderFlagList·count="1"> | 501995 | ······<DisorderFlagList·count="1"> |
| 501951 | ········<DisorderFlag·id="475"> | 501996 | ········<DisorderFlag·id="475"> |
| 501952 | ··········<Value>1</Value> | 501997 | ··········<Value>1</Value> |
| 501953 | ··········<Label></Label> | 501998 | ··········<Label></Label> |
| 501954 | ········</DisorderFlag> | 501999 | ········</DisorderFlag> |
| 501955 | ······</DisorderFlagList> | 502000 | ······</DisorderFlagList> |
| 501956 | ······<SynonymList·count="1"> | 502001 | ······<SynonymList·count="2"> |
| 501957 | ········<Synonym·lang="nl">OHSS</Synonym> | 502002 | ········<Synonym·lang="nl">OHSS</Synonym> |
| | 502003 | ········<Synonym·lang="nl">Ovariumhyperstimulatiesyndroom</Synonym> |
| 501958 | ······</SynonymList> | 502004 | ······</SynonymList> |
| 501959 | ······<DisorderType·id="21394"> | 502005 | ······<DisorderType·id="21394"> |
| 501960 | ········<Name·lang="nl">Ziekte</Name> | 502006 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 502338 | ······</ExternalReferenceList> | 502384 | ······</ExternalReferenceList> |
| 502339 | ······<DisorderDisorderAssociationList·count="0"> | 502385 | ······<DisorderDisorderAssociationList·count="0"> |
| 502340 | ······</DisorderDisorderAssociationList> | 502386 | ······</DisorderDisorderAssociationList> |
| 502341 | ······<SummaryInformationList·count="0"> | 502387 | ······<SummaryInformationList·count="1"> |
| | 502388 | ········<SummaryInformation·id="129119"·lang="nl"> |
| | 502389 | ··········<TextSectionList·count="1"> |
| | 502390 | ············<TextSection·id="167972"·lang="nl"> |
| | 502391 | ··············<TextSectionType·id="16907"> |
| | 502392 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 502393 | ··············</TextSectionType> |
| | 502394 | ··············<Contents>Een·zeldzame·tumor·van·luchtwegen,·gekarakteriseerd·door·een·agressief,·maligne,·dysontogenetisch·neoplasma·van·intrathoracaal·(pulmonaal,·pleuraal,·of·gecombineerd)·mesenchym·dat·voorkomt·bij·jonge·kinderen.·Er·worden·drie·subtypes·onderscheiden:·type·1·is·zuiver·cystisch,·type·2·is·cystisch·en·solide,·en·type·3·is·zuiver·solide.·Type·1·laesies·kunnen·evolueren·tot·de·meer·maligne·types·2·en·3,·die·geassocieerd·zijn·met·metastase·naar·centraal·zenuwstelsel·en·bot.·De·tumor·maakt·vaak·deel·uit·van·familiaal·tumorpredispositiesyndroom·voor·pleuropulmonaal·blastoom·en·dysplasiesyndroom.·Het·kan·ook·geassocieerd·zijn·met·multiloculair·cystisch·nefroom·of·andere·neoplasmata.·Patiënten·presenteren·zich·meestal·met·dyspneu·of·andere·ademhalingsproblemen,·en·soms·met·klaplong.</Contents> |
| | 502395 | ············</TextSection> |
| | 502396 | ··········</TextSectionList> |
| | 502397 | ········</SummaryInformation> |
| 502342 | ······</SummaryInformationList> | 502398 | ······</SummaryInformationList> |
| 502343 | ····</Disorder> | 502399 | ····</Disorder> |
| 502344 | ····<Disorder·id="10845"> | 502400 | ····<Disorder·id="10845"> |
| ⋮ | ⋮ |
| 502533 | ······</ExternalReferenceList> | 502589 | ······</ExternalReferenceList> |
| 502534 | ······<DisorderDisorderAssociationList·count="0"> | 502590 | ······<DisorderDisorderAssociationList·count="0"> |
| 502535 | ······</DisorderDisorderAssociationList> | 502591 | ······</DisorderDisorderAssociationList> |
| 502536 | ······<SummaryInformationList·count="1"> | 502592 | ······<SummaryInformationList·count="0"> |
| 502537 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 502538 | ··········<TextSectionList·count="0"> | |
| 502539 | ··········</TextSectionList> | |
| 502540 | ··········<TextAuto> | |
| 502541 | ············<Info·lang="nl">Deze·ziekte·is·niet·zeldzaam·in·Europa.·De·ziekte·maakt·geen·deel·uit·van·de·nomenclatuur·van·zeldzame·ziekten·van·Orphanet.</Info> | |
| 502542 | ··········</TextAuto> | |
| 502543 | ········</SummaryInformation> | |
| 502544 | ······</SummaryInformationList> | 502593 | ······</SummaryInformationList> |
| 502545 | ····</Disorder> | 502594 | ····</Disorder> |
| 502546 | ····<Disorder·id="10818"> | 502595 | ····<Disorder·id="10818"> |
| ⋮ | ⋮ |
| 503187 | ······</ExternalReferenceList> | 503236 | ······</ExternalReferenceList> |
| 503188 | ······<DisorderDisorderAssociationList·count="0"> | 503237 | ······<DisorderDisorderAssociationList·count="0"> |
| 503189 | ······</DisorderDisorderAssociationList> | 503238 | ······</DisorderDisorderAssociationList> |
| 503190 | ······<SummaryInformationList·count="1"> | 503239 | ······<SummaryInformationList·count="0"> |
| 503191 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 503192 | ··········<TextSectionList·count="0"> | |
| 503193 | ··········</TextSectionList> | |
| 503194 | ··········<TextAuto> | |
| 503195 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 503196 | ··········</TextAuto> | |
| 503197 | ········</SummaryInformation> | |
| 503198 | ······</SummaryInformationList> | 503240 | ······</SummaryInformationList> |
| 503199 | ····</Disorder> | 503241 | ····</Disorder> |
| 503200 | ····<Disorder·id="10827"> | 503242 | ····<Disorder·id="10827"> |
| ⋮ | ⋮ |
| 503313 | ······</ExternalReferenceList> | 503355 | ······</ExternalReferenceList> |
| 503314 | ······<DisorderDisorderAssociationList·count="0"> | 503356 | ······<DisorderDisorderAssociationList·count="0"> |
| 503315 | ······</DisorderDisorderAssociationList> | 503357 | ······</DisorderDisorderAssociationList> |
| 503316 | ······<SummaryInformationList·count="1"> | 503358 | ······<SummaryInformationList·count="0"> |
| 503317 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 503318 | ··········<TextSectionList·count="0"> | |
| 503319 | ··········</TextSectionList> | |
| 503320 | ··········<TextAuto> | |
| 503321 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 503322 | ··········</TextAuto> | |
| 503323 | ········</SummaryInformation> | |
| 503324 | ······</SummaryInformationList> | 503359 | ······</SummaryInformationList> |
| 503325 | ····</Disorder> | 503360 | ····</Disorder> |
| 503326 | ····<Disorder·id="10825"> | 503361 | ····<Disorder·id="10825"> |
| ⋮ | ⋮ |
| 505930 | ····<Disorder·id="10782"> | 505965 | ····<Disorder·id="10782"> |
| 505931 | ······<OrphaCode>59135</OrphaCode> | 505966 | ······<OrphaCode>59135</OrphaCode> |
| 505932 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=59135</ExpertLink> | 505967 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=59135</ExpertLink> |
| 505933 | ······<Name·lang="nl">Laing·distale·myopathie·met·vroege·aanvang</Name> | 505968 | ······<Name·lang="nl">Distale·myopathie·met·vroege·aanvang,·Laing-type</Name> |
| 505934 | ······<DisorderFlagList·count="1"> | 505969 | ······<DisorderFlagList·count="1"> |
| 505935 | ········<DisorderFlag·id="475"> | 505970 | ········<DisorderFlag·id="475"> |
| 505936 | ··········<Value>1</Value> | 505971 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 508784 | ······</DisorderFlagList> | 508819 | ······</DisorderFlagList> |
| 508785 | ······<SynonymList·count="4"> | 508820 | ······<SynonymList·count="4"> |
| 508786 | ········<Synonym·lang="nl">Bilirubine-UGT-deficiëntie·type·1</Synonym> | 508821 | ········<Synonym·lang="nl">Bilirubine-UGT-deficiëntie·type·1</Synonym> |
| 508787 | ········<Synonym·lang="nl">Bilirubine-uridinedifosfaat-glucuronosyltransferasedeficiëntie·type·1</Synonym> | 508822 | ········<Synonym·lang="nl">Deficiëntie·van·bilirubine-uridinedifosfaat-glucuronosyltransferase·type·1</Synonym> |
| 508788 | ········<Synonym·lang="nl">Erfelijke·ongeconjugeerde·hyperbilirubinemie·type·1</Synonym> | 508823 | ········<Synonym·lang="nl">Erfelijke·ongeconjugeerde·hyperbilirubinemie·type·1</Synonym> |
| 508789 | ········<Synonym·lang="nl">UGT-deficiëntie·type·1</Synonym> | 508824 | ········<Synonym·lang="nl">UGT-deficiëntie·type·1</Synonym> |
| 508790 | ······</SynonymList> | 508825 | ······</SynonymList> |
| ⋮ | ⋮ |
| 508902 | ······</DisorderFlagList> | 508937 | ······</DisorderFlagList> |
| 508903 | ······<SynonymList·count="5"> | 508938 | ······<SynonymList·count="5"> |
| 508904 | ········<Synonym·lang="nl">Bilirubine-UGT-deficiëntie·type·2</Synonym> | 508939 | ········<Synonym·lang="nl">Bilirubine-UGT-deficiëntie·type·2</Synonym> |
| 508905 | ········<Synonym·lang="nl">Bilirubine-uridinedifosfaat-glucuronosyltransferasedeficiëntie·type·2</Synonym> | 508940 | ········<Synonym·lang="nl">Deficiëntie·van·bilirubine-uridinedifosfaat-glucuronosyltransferase·type·2</Synonym> |
| 508906 | ········<Synonym·lang="nl">Erfelijke·ongeconjugeerde·hyperbilirubinemie·type·2</Synonym> | 508941 | ········<Synonym·lang="nl">Erfelijke·ongeconjugeerde·hyperbilirubinemie·type·2</Synonym> |
| 508907 | ········<Synonym·lang="nl">Syndroom·van·Arias</Synonym> | 508942 | ········<Synonym·lang="nl">Syndroom·van·Arias</Synonym> |
| 508908 | ········<Synonym·lang="nl">UGT-deficiëntie·type·2</Synonym> | 508943 | ········<Synonym·lang="nl">UGT-deficiëntie·type·2</Synonym> |
| ⋮ | ⋮ |
| 511226 | ····<Disorder·id="11176"> | 511261 | ····<Disorder·id="11176"> |
| 511227 | ······<OrphaCode>79150</OrphaCode> | 511262 | ······<OrphaCode>79150</OrphaCode> |
| 511228 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79150</ExpertLink> | 511263 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79150</ExpertLink> |
| 511229 | ······<Name·lang="nl">Lineaire·en·gedraaide·nevoïde·hypermelanosis</Name> | 511264 | ······<Name·lang="nl">Lineaire·en·spiraalvormige·naevoïde·hypermelanose</Name> |
| 511230 | ······<DisorderFlagList·count="1"> | 511265 | ······<DisorderFlagList·count="1"> |
| 511231 | ········<DisorderFlag·id="475"> | 511266 | ········<DisorderFlag·id="475"> |
| 511232 | ··········<Value>1</Value> | 511267 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 512109 | ····<Disorder·id="11194"> | 512144 | ····<Disorder·id="11194"> |
| 512110 | ······<OrphaCode>79168</OrphaCode> | 512145 | ······<OrphaCode>79168</OrphaCode> |
| 512111 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79168</ExpertLink> | 512146 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79168</ExpertLink> |
| 512112 | ······<Name·lang="nl">Defect·van·galzuursynthese</Name> | 512147 | ······<Name·lang="nl">Aandoening·van·galzuursynthese</Name> |
| 512113 | ······<DisorderFlagList·count="1"> | 512148 | ······<DisorderFlagList·count="1"> |
| 512114 | ········<DisorderFlag·id="475"> | 512149 | ········<DisorderFlag·id="475"> |
| 512115 | ··········<Value>1</Value> | 512150 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 512275 | ······</ExternalReferenceList> | 512310 | ······</ExternalReferenceList> |
| 512276 | ······<DisorderDisorderAssociationList·count="0"> | 512311 | ······<DisorderDisorderAssociationList·count="0"> |
| 512277 | ······</DisorderDisorderAssociationList> | 512312 | ······</DisorderDisorderAssociationList> |
| 512278 | ······<SummaryInformationList·count="1"> | 512313 | ······<SummaryInformationList·count="0"> |
| 512279 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 512280 | ··········<TextSectionList·count="0"> | |
| 512281 | ··········</TextSectionList> | |
| 512282 | ··········<TextAuto> | |
| 512283 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 512284 | ··········</TextAuto> | |
| 512285 | ········</SummaryInformation> | |
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| 512287 | ····</Disorder> | 512315 | ····</Disorder> |
| 512288 | ····<Disorder·id="11189"> | 512316 | ····<Disorder·id="11189"> |
| ⋮ | ⋮ |
| 512741 | ··········<TargetDisorder·id="28494"·cycle="true"/> | 512769 | ··········<TargetDisorder·id="28494"·cycle="true"/> |
| 512742 | ··········<RootDisorder·id="17596"> | 512770 | ··········<RootDisorder·id="17596"> |
| 512743 | ············<OrphaCode>165994</OrphaCode> | 512771 | ············<OrphaCode>165994</OrphaCode> |
| 512744 | ············<Name·lang="nl">Resistentie·van·de·hypofyse·tegen·schildklierhormoon</Name> | 512772 | ············<Name·lang="nl">Resistentie·van·hypofyse·tegen·schildklierhormoon</Name> |
| 512745 | ··········</RootDisorder> | 512773 | ··········</RootDisorder> |
| 512746 | ··········<DisorderDisorderAssociationType·id="21471"> | 512774 | ··········<DisorderDisorderAssociationType·id="21471"> |
| 512747 | ············<Name·lang="nl">Verplaatst·naar</Name> | 512775 | ············<Name·lang="nl">Verplaatst·naar</Name> |
| ⋮ | ⋮ |
| 512846 | ······</ExternalReferenceList> | 512874 | ······</ExternalReferenceList> |
| 512847 | ······<DisorderDisorderAssociationList·count="0"> | 512875 | ······<DisorderDisorderAssociationList·count="0"> |
| 512848 | ······</DisorderDisorderAssociationList> | 512876 | ······</DisorderDisorderAssociationList> |
| 512849 | ······<SummaryInformationList·count="0"> | 512877 | ······<SummaryInformationList·count="1"> |
| | 512878 | ········<SummaryInformation·id="129124"·lang="nl"> |
| | 512879 | ··········<TextSectionList·count="1"> |
| | 512880 | ············<TextSection·id="167977"·lang="nl"> |
| | 512881 | ··············<TextSectionType·id="16907"> |
| | 512882 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 512883 | ··············</TextSectionType> |
| | 512884 | ··············<Contents>Een·zeldzame·systemische·mastocytose,·gekarakteriseerd·door·de·aanwezigheid·van·minstens·20%·meestal·onrijpe·en·atypische·mestcellen·in·uitstrijkjes·van·aspiraat·van·beenmerg.·Bij·klassieke·mestcelleukemie·vertegenwoordigen·mestcellen·minstens·10%·van·de·perifere·witte·bloedcellen,·maar·de·aleukemische·variant·met·minder·dan·10%·mestcellen·komt·vaker·voor.·C-bevindingen·(cytopenie,·hepatomegalie,·ascites,·portale·hypertensie,·splenomegalie,·laesies·van·skelet,·malabsorptie),·die·wijzen·op·orgaanschade·door·infiltratie·van·mestcellen,·zijn·meestal·aanwezig·bij·de·diagnose,·terwijl·huidlaesies·in·de·meeste·gevallen·afwezig·zijn.·De·prognose·is·doorgaans·slecht.</Contents> |
| | 512885 | ············</TextSection> |
| | 512886 | ··········</TextSectionList> |
| | 512887 | ········</SummaryInformation> |
| 512850 | ······</SummaryInformationList> | 512888 | ······</SummaryInformationList> |
| 512851 | ····</Disorder> | 512889 | ····</Disorder> |
| 512852 | ····<Disorder·id="11150"> | 512890 | ····<Disorder·id="11150"> |
| 512853 | ······<OrphaCode>79113</OrphaCode> | 512891 | ······<OrphaCode>79113</OrphaCode> |
| 512854 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79113</ExpertLink> | 512892 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79113</ExpertLink> |
| 512855 | ······<Name·lang="nl">Mandibulofaciale·dysostose-microcefaliesyndroom</Name> | 512893 | ······<Name·lang="nl">Mandibulofaciale·dysostose·-·microcefalie-syndroom</Name> |
| 512856 | ······<DisorderFlagList·count="1"> | 512894 | ······<DisorderFlagList·count="1"> |
| 512857 | ········<DisorderFlag·id="475"> | 512895 | ········<DisorderFlag·id="475"> |
| 512858 | ··········<Value>1</Value> | 512896 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 512861 | ······</DisorderFlagList> | 512899 | ······</DisorderFlagList> |
| 512862 | ······<SynonymList·count="2"> | 512900 | ······<SynonymList·count="2"> |
| 512863 | ········<Synonym·lang="nl">MFDM-syndroom</Synonym> | 512901 | ········<Synonym·lang="nl">MFDM-syndroom</Synonym> |
| 512864 | ········<Synonym·lang="nl">Mandibulofaciale·dysostose,·Guion-Almeida·type</Synonym> | 512902 | ········<Synonym·lang="nl">Mandibulofaciale·dysostose,·Guion-Almeida-type</Synonym> |
| 512865 | ······</SynonymList> | 512903 | ······</SynonymList> |
| 512866 | ······<DisorderType·id="21401"> | 512904 | ······<DisorderType·id="21401"> |
| 512867 | ········<Name·lang="nl">Malformatiesyndroom</Name> | 512905 | ········<Name·lang="nl">Malformatiesyndroom</Name> |
| ⋮ | ⋮ |
| 512926 | ··············<TextSectionType·id="16907"> | 512964 | ··············<TextSectionType·id="16907"> |
| 512927 | ················<Name·lang="nl">Definitie·ziekte</Name> | 512965 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 512928 | ··············</TextSectionType> | 512966 | ··············</TextSectionType> |
| 512929 | ··············<Contents>Mandibulofaciale·dysostose·-·microcefalie-syndroom·is·een·zeldzame,·genetische·multipele·malformatiestoornis·die·gekarakteriseerd·wordt·door·hypoplasie·van·het·jukbeen·en·het·kaakbeen,·microcefalie,·oormalformaties·met·geassocieerd·conductief·gehoorverlies,·kenmerkende·gelaatsdysmorfie,·ontwikkelingsachterstand·en·intellectuele·achterstand.</Contents> | 512967 | ··············<Contents>Een·zeldzaam,·genetisch·syndroom·met·multipele·congenitale·malformaties,·gekarakteriseerd·door·hypoplasie·van·jukbeenderen·en·mandibula,·microcefalie,·oormalformaties·met·geassocieerd·conductief·gehoorverlies,·kenmerkende·faciale·dysmorfie·(met·significante·overlap·met·syndroom·van·Treacher-Collins),·ontwikkelingsachterstand,·en·intellectuele·achterstand.</Contents> |
| 512930 | ············</TextSection> | 512968 | ············</TextSection> |
| 512931 | ··········</TextSectionList> | 512969 | ··········</TextSectionList> |
| 512932 | ········</SummaryInformation> | 512970 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 513509 | ····<Disorder·id="11137"> | 513547 | ····<Disorder·id="11137"> |
| 513510 | ······<OrphaCode>79095</OrphaCode> | 513548 | ······<OrphaCode>79095</OrphaCode> |
| 513511 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79095</ExpertLink> | 513549 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79095</ExpertLink> |
| 513512 | ······<Name·lang="nl">Congenitaal·galzuursynthesedefect·type·4</Name> | 513550 | ······<Name·lang="nl">Congenitaal·defect·van·galzuursynthese·type·4</Name> |
| 513513 | ······<DisorderFlagList·count="1"> | 513551 | ······<DisorderFlagList·count="1"> |
| 513514 | ········<DisorderFlag·id="475"> | 513552 | ········<DisorderFlag·id="475"> |
| 513515 | ··········<Value>1</Value> | 513553 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 513517 | ········</DisorderFlag> | 513555 | ········</DisorderFlag> |
| 513518 | ······</DisorderFlagList> | 513556 | ······</DisorderFlagList> |
| 513519 | ······<SynonymList·count="5"> | 513557 | ······<SynonymList·count="5"> |
| 513520 | ········<Synonym·lang="nl">2-methylacyl-CoA-racemasedeficiëntie</Synonym> | |
| 513521 | ········<Synonym·lang="nl">AMACR-deficiëntie</Synonym> | 513558 | ········<Synonym·lang="nl">AMACR-deficiëntie</Synonym> |
| 513522 | ········<Synonym·lang="nl">Alfa-methylacyl-CoA-racemasedeficiëntie</Synonym> | |
| 513523 | ········<Synonym·lang="nl">BASD4</Synonym> | 513559 | ········<Synonym·lang="nl">BASD4</Synonym> |
| | 513560 | ········<Synonym·lang="nl">Deficiëntie·van·2-methylacyl-CoA-racemase</Synonym> |
| | 513561 | ········<Synonym·lang="nl">Deficiëntie·van·alfa-methylacyl-CoA-racemase</Synonym> |
| 513524 | ········<Synonym·lang="nl">Leverziekte·-·retinitis·pigmentosa·-·polyneuropathie·-·epilepsie-syndroom</Synonym> | 513562 | ········<Synonym·lang="nl">Leverziekte·-·retinitis·pigmentosa·-·polyneuropathie·-·epilepsie-syndroom</Synonym> |
| 513525 | ······</SynonymList> | 513563 | ······</SynonymList> |
| 513526 | ······<DisorderType·id="21394"> | 513564 | ······<DisorderType·id="21394"> |
| ⋮ | ⋮ |
| 515853 | ··········</DisorderDisorderAssociationType> | 515891 | ··········</DisorderDisorderAssociationType> |
| 515854 | ········</DisorderDisorderAssociation> | 515892 | ········</DisorderDisorderAssociation> |
| 515855 | ······</DisorderDisorderAssociationList> | 515893 | ······</DisorderDisorderAssociationList> |
| 515856 | ······<SummaryInformationList·count="0"> | 515894 | ······<SummaryInformationList·count="1"> |
| | 515895 | ········<SummaryInformation·id="129122"·lang="nl"> |
| | 515896 | ··········<TextSectionList·count="1"> |
| | 515897 | ············<TextSection·id="167975"·lang="nl"> |
| | 515898 | ··············<TextSectionType·id="16907"> |
| | 515899 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 515900 | ··············</TextSectionType> |
| | 515901 | ··············<Contents>Een·zeldzaam,·genetisch·syndroom·met·multipele·congenitale·anomalieën/dysmorfie,·gekarakteriseerd·door·de·associatie·van·ooranomalieën·(zoals·afwijkingen·van·uitwendig·oor·en·postauriculaire·fistels)·en·gespleten·lip·met·of·zonder·gespleten·verhemelte.·Bijkomende·manifestaties·zijn·onder·meer·myopie,·nystagmus,·en·afwijkingen·van·retinaal·pigment.</Contents> |
| | 515902 | ············</TextSection> |
| | 515903 | ··········</TextSectionList> |
| | 515904 | ········</SummaryInformation> |
| 515857 | ······</SummaryInformationList> | 515905 | ······</SummaryInformationList> |
| 515858 | ····</Disorder> | 515906 | ····</Disorder> |
| 515859 | ····<Disorder·id="11113"> | 515907 | ····<Disorder·id="11113"> |
| ⋮ | ⋮ |
| 517280 | ······</ExternalReferenceList> | 517328 | ······</ExternalReferenceList> |
| 517281 | ······<DisorderDisorderAssociationList·count="0"> | 517329 | ······<DisorderDisorderAssociationList·count="0"> |
| 517282 | ······</DisorderDisorderAssociationList> | 517330 | ······</DisorderDisorderAssociationList> |
| 517283 | ······<SummaryInformationList·count="0"> | 517331 | ······<SummaryInformationList·count="1"> |
| | 517332 | ········<SummaryInformation·id="128987"·lang="nl"> |
| | 517333 | ··········<TextSectionList·count="1"> |
| | 517334 | ············<TextSection·id="167911"·lang="nl"> |
| | 517335 | ··············<TextSectionType·id="16907"> |
| | 517336 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 517337 | ··············</TextSectionType> |
| | 517338 | ··············<Contents>Een·zeldzame,·genetische·neuromusculaire·aandoening,·gekarakteriseerd·door·vroege·aanvang·van·proximale·of·gegeneraliseerde·spierzwakte,·externe·oftalmoplegie·met·of·zonder·ptosis,·en·gewrichtscontracturen.·Hypotonie,·neonatale·ademnood·met·nood·aan·beademing,·en·ernstige·dysfagie·werden·ook·reeds·gerapporteerd.·De·ziekte·toont·variabele·gradaties·van·ernst·en·is·niet·of·traag·progressief.·Patiënten·blijven·doorgaans·in·staat·te·lopen.·Spierbiopsie·toont·mogelijk·overwicht·van·type·1·vezels,·opmerkelijke·variabiliteit·van·vezelgrootte,·verhoogd·aantal·interne·nuclei,·en·proliferatie·van·perimysiaal·en·endomysiaal·bindweefsel.</Contents> |
| | 517339 | ············</TextSection> |
| | 517340 | ··········</TextSectionList> |
| | 517341 | ········</SummaryInformation> |
| 517284 | ······</SummaryInformationList> | 517342 | ······</SummaryInformationList> |
| 517285 | ····</Disorder> | 517343 | ····</Disorder> |
| 517286 | ····<Disorder·id="11132"> | 517344 | ····<Disorder·id="11132"> |
| ⋮ | ⋮ |
| 518028 | ······</ExternalReferenceList> | 518086 | ······</ExternalReferenceList> |
| 518029 | ······<DisorderDisorderAssociationList·count="0"> | 518087 | ······<DisorderDisorderAssociationList·count="0"> |
| 518030 | ······</DisorderDisorderAssociationList> | 518088 | ······</DisorderDisorderAssociationList> |
| 518031 | ······<SummaryInformationList·count="0"> | 518089 | ······<SummaryInformationList·count="1"> |
| | 518090 | ········<SummaryInformation·id="129137"·lang="nl"> |
| | 518091 | ··········<TextSectionList·count="1"> |
| | 518092 | ············<TextSection·id="167990"·lang="nl"> |
| | 518093 | ··············<TextSectionType·id="16907"> |
| | 518094 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 518095 | ··············</TextSectionType> |
| | 518096 | ··············<Contents>Een·groep·van·zeldzame·malformaties·van·centraal·zenuwstelsel,·gekarakteriseerd·door·variabele·gradaties·van·afwezigheid·of·dysplasie·van·structuren·afgeleid·van·het·prosencephalon·(i.e.·telencephalon·en·diencephalon),·met·een·intact·schedeldak.·Het·spectrum·omvat·atelencefalie,·de·minder·ernstige·vorm,·waarbij·enkel·het·telencephalon·is·aangetast,·en·aprosencefalie,·waarbij·ook·het·diencephalon·betrokken·is.·De·malformaties·kunnen·geïsoleerd·voorkomen,·of·geassocieerd·zijn·met·andere·anomalieën.</Contents> |
| | 518097 | ············</TextSection> |
| | 518098 | ··········</TextSectionList> |
| | 518099 | ········</SummaryInformation> |
| 518032 | ······</SummaryInformationList> | 518100 | ······</SummaryInformationList> |
| 518033 | ····</Disorder> | 518101 | ····</Disorder> |
| 518034 | ····<Disorder·id="11080"> | 518102 | ····<Disorder·id="11080"> |
| ⋮ | ⋮ |
| 518067 | ······</ExternalReferenceList> | 518135 | ······</ExternalReferenceList> |
| 518068 | ······<DisorderDisorderAssociationList·count="0"> | 518136 | ······<DisorderDisorderAssociationList·count="0"> |
| 518069 | ······</DisorderDisorderAssociationList> | 518137 | ······</DisorderDisorderAssociationList> |
| 518070 | ······<SummaryInformationList·count="0"> | 518138 | ······<SummaryInformationList·count="1"> |
| | 518139 | ········<SummaryInformation·id="129113"·lang="nl"> |
| | 518140 | ··········<TextSectionList·count="1"> |
| | 518141 | ············<TextSection·id="167966"·lang="nl"> |
| | 518142 | ··············<TextSectionType·id="16907"> |
| | 518143 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 518144 | ··············</TextSectionType> |
| | 518145 | ··············<Contents>Een·zeldzaam·syndroom·met·multipele·congenitale·anomalieën/dysmorfie,·gekarakteriseerd·door·intra-uteriene·groeiretardatie,·multipele·congenitale·malformaties·(zoals·hersenmalformaties·waaronder·ectopische·neurohypofyse,·hypoplastische·adenohypofyse,·en·hypoplastische·cerebellaire·vermis,·hart-·en·nieranomalieën,·en·postaxiale·polydactylie),·abnormale·haarstructuur·met·temporale·kaalheid,·en·dysmorfe·gelaatskenmerken·waaronder·hypoplastische·neusbrug,·anteversie·van·de·neusgaten,·dysplastische·oren,·lang·en·glad·filtrum,·smalle·bovenlip,·en·prominente·en·asymmetrische·onderlip.·Postnatale·groeiretardatie·en·ernstige·ontwikkelingsachterstand·werden·ook·reeds·gerapporteerd.</Contents> |
| | 518146 | ············</TextSection> |
| | 518147 | ··········</TextSectionList> |
| | 518148 | ········</SummaryInformation> |
| 518071 | ······</SummaryInformationList> | 518149 | ······</SummaryInformationList> |
| 518072 | ····</Disorder> | 518150 | ····</Disorder> |
| 518073 | ····<Disorder·id="28552"> | 518151 | ····<Disorder·id="28552"> |
| ⋮ | ⋮ |
| 518442 | ··············<TextSectionType·id="16907"> | 518520 | ··············<TextSectionType·id="16907"> |
| 518443 | ················<Name·lang="nl">Definitie·ziekte</Name> | 518521 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 518444 | ··············</TextSectionType> | 518522 | ··············</TextSectionType> |
| 518445 | ··············<Contents>Een·zeldzaam·subtype·van·spondylodysplastisch·syndroom·van·Ehlers-Danlos,·gekarakteriseerd·door·kleine·gestalte,·variabele·gradaties·van·spierhypotonie,·en·verkromming·van·ledematen.·Bijkomende·kenmerken·zijn·onder·meer·typische·radiografische·bevindingen·(zoals·radio-ulnaire·synostose,·metafysaire·verbreding,·osteopenie,·subluxatie·of·dislocatie·van·radiuskop,·en·korte·sleutelbeenderen·met·brede·mediale·uiteinden),·hyperelastische·huid,·zachte·en·deegachtige·huid,·dunne·doorschijnende·huid,·vertraagde·motorische·en/or·cognitieve·ontwikkeling,·gegeneraliseerde·gewrichtshypermobiliteit,·typische·craniofaciale·kenmerken·(zoals·driehoekig·of·plat·gelaat,·ver·uit·elkaar·staande·ogen,·proptosis,·smalle·mond,·laagstaande·oren,·schaars·hoofdhaar,·abnormaal·gebit,·en·breed·voorhoofd),·en·ooganomalieën.·Moleculair·testen·is·vereist·om·de·diagnose·te·bevestigen.</Contents> | 518523 | ··············<Contents>Een·vorm·van·spondylodysplastisch·syndroom·van·Ehlers-Danlos,·veroorzaakt·door·varianten·in·<i>B4GALT7</i>·en·gekarakteriseerd·door·kleine·gestalte,·variabele·gradaties·van·spierhypotonie,·gewrichtshypermobiliteit,·vooral·van·de·handen,·en·kromstand·van·ledematen.·Bijkomende·kenmerken·zijn·onder·meer·het·typische·craniofaciale·uiterlijk·(hypoplasie·van·middengezicht,·rond·en·plat·gelaat,·proptosis·en·smalle·mond),·hyperelastische·huid·die·zacht,·dun,·doorschijnende·en·deegachtig·is,·motorische·en/of·cognitieve·ontwikkelingsachterstand,·kenmerkende·radiografische·bevindingen·(zoals·radio-ulnaire·synostose,·subluxatie·of·luxatie·van·radiuskop,·verbreding·van·metafysen·en·osteopenie),·en·ooganomalieën.</Contents> |
| 518446 | ············</TextSection> | 518524 | ············</TextSection> |
| 518447 | ··········</TextSectionList> | 518525 | ··········</TextSectionList> |
| 518448 | ········</SummaryInformation> | 518526 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 519448 | ······</ExternalReferenceList> | 519526 | ······</ExternalReferenceList> |
| 519449 | ······<DisorderDisorderAssociationList·count="0"> | 519527 | ······<DisorderDisorderAssociationList·count="0"> |
| 519450 | ······</DisorderDisorderAssociationList> | 519528 | ······</DisorderDisorderAssociationList> |
| 519451 | ······<SummaryInformationList·count="0"> | 519529 | ······<SummaryInformationList·count="1"> |
| | 519530 | ········<SummaryInformation·id="129134"·lang="nl"> |
| | 519531 | ··········<TextSectionList·count="1"> |
| | 519532 | ············<TextSection·id="167987"·lang="nl"> |
| | 519533 | ··············<TextSectionType·id="16907"> |
| | 519534 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 519535 | ··············</TextSectionType> |
| | 519536 | ··············<Contents>Een·zeldzame,·genetische·syndromale·intellectuele·achterstand,·gekarakteriseerd·door·taalachterstand·en·milde·tot·matige·intellectuele·achterstand,·geassocieerd·met·centrale·obesitas,·congenitale·niet-progressieve·retinadystrofie·met·slecht·nachtzicht·en·gereduceerde·gezichtsscherpte,·en·micropenis·bij·mannen.·In·het·tweede·of·derde·levensdecennium·kan·cataract·optreden.</Contents> |
| | 519537 | ············</TextSection> |
| | 519538 | ··········</TextSectionList> |
| | 519539 | ········</SummaryInformation> |
| 519452 | ······</SummaryInformationList> | 519540 | ······</SummaryInformationList> |
| 519453 | ····</Disorder> | 519541 | ····</Disorder> |
| 519454 | ····<Disorder·id="11099"> | 519542 | ····<Disorder·id="11099"> |
| ⋮ | ⋮ |
| 520558 | ······</ExternalReferenceList> | 520646 | ······</ExternalReferenceList> |
| 520559 | ······<DisorderDisorderAssociationList·count="0"> | 520647 | ······<DisorderDisorderAssociationList·count="0"> |
| 520560 | ······</DisorderDisorderAssociationList> | 520648 | ······</DisorderDisorderAssociationList> |
| 520561 | ······<SummaryInformationList·count="0"> | 520649 | ······<SummaryInformationList·count="1"> |
| | 520650 | ········<SummaryInformation·id="128985"·lang="nl"> |
| | 520651 | ··········<TextSectionList·count="1"> |
| | 520652 | ············<TextSection·id="167909"·lang="nl"> |
| | 520653 | ··············<TextSectionType·id="16907"> |
| | 520654 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 520655 | ··············</TextSectionType> |
| | 520656 | ··············<Contents>Een·zeldzaam·primair·lymfoedeem,·gekarakteriseerd·door·bilaterale,·pijnloze·zwelling·van·onderste·ledematen·die·aanwezig·is·bij·de·geboorte.·Prominente·aders·rond·de·enkels·en·op·de·dorsale·zijde·van·de·voeten,·dysplastische·en·opwaarts·hellende·teennagels·als·gevolg·van·oedeem·van·het·nagelbed,·en·subtiele·dysmorfe·gelaatskenmerken·(zoals·hoog·voorhoofd,·hypertelorisme,·ingezakte·neusbrug,·milde·bilaterale·dysplasie·van·de·oren,·en·korte·hals)·werden·ook·reeds·beschreven.·De·mate·van·aantasting·van·lymfevaten·is·milder·dan·bij·de·voor·het·overige·klinisch·gelijkaardige·ziekte·van·Milroy,·zoals·blijkt·uit·iets·minder·ernstig·lymfoedeem·en·significant·meer·opname·van·tracers·bij·lymfoscintigrafie.</Contents> |
| | 520657 | ············</TextSection> |
| | 520658 | ··········</TextSectionList> |
| | 520659 | ········</SummaryInformation> |
| 520562 | ······</SummaryInformationList> | 520660 | ······</SummaryInformationList> |
| 520563 | ····</Disorder> | 520661 | ····</Disorder> |
| 520564 | ····<Disorder·id="11054"> | 520662 | ····<Disorder·id="11054"> |
| ⋮ | ⋮ |
| 520656 | ······</ExternalReferenceList> | 520754 | ······</ExternalReferenceList> |
| 520657 | ······<DisorderDisorderAssociationList·count="0"> | 520755 | ······<DisorderDisorderAssociationList·count="0"> |
| 520658 | ······</DisorderDisorderAssociationList> | 520756 | ······</DisorderDisorderAssociationList> |
| 520659 | ······<SummaryInformationList·count="0"> | 520757 | ······<SummaryInformationList·count="1"> |
| | 520758 | ········<SummaryInformation·id="129150"·lang="nl"> |
| | 520759 | ··········<TextSectionList·count="1"> |
| | 520760 | ············<TextSection·id="168003"·lang="nl"> |
| | 520761 | ··············<TextSectionType·id="16907"> |
| | 520762 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 520763 | ··············</TextSectionType> |
| | 520764 | ··············<Contents>Een·zeldzaam,·genetisch·primair·lymfoedeem,·gekarakteriseerd·door·unilateraal·of·bilateraal·lymfoedeem·van·onderste·ledematen·met·variabele·gradaties·van·ernst.·De·aandoening·vertoont·bij·vrouwen·nagenoeg·volledige·penetrantie·met·aanvang·in·de·kindertijd·of·adolescentie,·maar·bij·mannen·onvolledige·penetrantie·en·latere·aanvang.·Bij·ernstiger·getroffen·individuen·toont·lymfoscintigrafie·afwijkingen·van·lymfevaten·die·consistent·zijn·met·lymfangiëctasie,·disfunctie·van·kleppen,·en·reflux·van·ductus·thoracicus.</Contents> |
| | 520765 | ············</TextSection> |
| | 520766 | ··········</TextSectionList> |
| | 520767 | ········</SummaryInformation> |
| 520660 | ······</SummaryInformationList> | 520768 | ······</SummaryInformationList> |
| 520661 | ····</Disorder> | 520769 | ····</Disorder> |
| 520662 | ····<Disorder·id="11050"> | 520770 | ····<Disorder·id="11050"> |
| ⋮ | ⋮ |
| 520668 | ··········<Value>8192</Value> | 520776 | ··········<Value>8192</Value> |
| 520669 | ··········<Label>Inactive</Label> | 520777 | ··········<Label>Inactive</Label> |
| 520670 | ········</DisorderFlag> | 520778 | ········</DisorderFlag> |
| 520671 | ········<DisorderFlag·id="461"> | 520779 | ········<DisorderFlag·id="455"> |
| 520672 | ··········<Value>1024</Value> | 520780 | ··········<Value>16</Value> |
| 520673 | ··········<Label>Obsolete·with·resources</Label> | 520781 | ··········<Label>Obsolete·entity</Label> |
| 520674 | ········</DisorderFlag> | 520782 | ········</DisorderFlag> |
| 520675 | ······</DisorderFlagList> | 520783 | ······</DisorderFlagList> |
| 520676 | ······<SynonymList·count="0"> | 520784 | ······<SynonymList·count="0"> |
| ⋮ | ⋮ |
| 520691 | ····<Disorder·id="11048"> | 520799 | ····<Disorder·id="11048"> |
| 520692 | ······<OrphaCode>73272</OrphaCode> | 520800 | ······<OrphaCode>73272</OrphaCode> |
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| 520694 | ······<Name·lang="nl">Groeiachterstand·als·gevolg·van·insuline-achtige·groeifactor·I-deficiëntie</Name> | 520802 | ······<Name·lang="nl">Groeiachterstand·door·deficiëntie·van·insulineachtige·groeifactor·I</Name> |
| 520695 | ······<DisorderFlagList·count="1"> | 520803 | ······<DisorderFlagList·count="1"> |
| 520696 | ········<DisorderFlag·id="475"> | 520804 | ········<DisorderFlag·id="475"> |
| 520697 | ··········<Value>1</Value> | 520805 | ··········<Value>1</Value> |
| 520698 | ··········<Label></Label> | 520806 | ··········<Label></Label> |
| 520699 | ········</DisorderFlag> | 520807 | ········</DisorderFlag> |
| 520700 | ······</DisorderFlagList> | 520808 | ······</DisorderFlagList> |
| 520701 | ······<SynonymList·count="3"> | 520809 | ······<SynonymList·count="4"> |
| 520702 | ········<Synonym·lang="nl">Groeiachterstand·-·doofheid·-·intellectuele·achterstand-syndroom</Synonym> | 520810 | ········<Synonym·lang="nl">Groeiachterstand·-·doofheid·-·intellectuele·achterstand-syndroom</Synonym> |
| | 520811 | ········<Synonym·lang="nl">Groeiachterstand·-·gehoorverlies·-·intellectuele·achterstand-syndroom</Synonym> |
| 520703 | ········<Synonym·lang="nl">IGF-1-deficiëntie</Synonym> | 520812 | ········<Synonym·lang="nl">IGF-1-deficiëntie</Synonym> |
| 520704 | ········<Synonym·lang="nl">Primaire·insuline-achtige·groeifactordeficiëntie</Synonym> | 520813 | ········<Synonym·lang="nl">Primaire·deficiëntie·van·insulineachtige·groeifactor</Synonym> |
| 520705 | ······</SynonymList> | 520814 | ······</SynonymList> |
| 520706 | ······<DisorderType·id="21394"> | 520815 | ······<DisorderType·id="21394"> |
| 520707 | ········<Name·lang="nl">Ziekte</Name> | 520816 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 520765 | ····<Disorder·id="11049"> | 520874 | ····<Disorder·id="11049"> |
| 520766 | ······<OrphaCode>73273</OrphaCode> | 520875 | ······<OrphaCode>73273</OrphaCode> |
| 520767 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=73273</ExpertLink> | 520876 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=73273</ExpertLink> |
| 520768 | ······<Name·lang="nl">Groeiachterstand·door·insuline-achtige·groeifactor·I-resistentie</Name> | 520877 | ······<Name·lang="nl">Groeiachterstand·door·insulineachtige·groeifactor·I-resistentie</Name> |
| 520769 | ······<DisorderFlagList·count="1"> | 520878 | ······<DisorderFlagList·count="1"> |
| 520770 | ········<DisorderFlag·id="475"> | 520879 | ········<DisorderFlag·id="475"> |
| 520771 | ··········<Value>1</Value> | 520880 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 521465 | ······</ExternalReferenceList> | 521574 | ······</ExternalReferenceList> |
| 521466 | ······<DisorderDisorderAssociationList·count="0"> | 521575 | ······<DisorderDisorderAssociationList·count="0"> |
| 521467 | ······</DisorderDisorderAssociationList> | 521576 | ······</DisorderDisorderAssociationList> |
| 521468 | ······<SummaryInformationList·count="0"> | 521577 | ······<SummaryInformationList·count="1"> |
| | 521578 | ········<SummaryInformation·id="129139"·lang="nl"> |
| | 521579 | ··········<TextSectionList·count="1"> |
| | 521580 | ············<TextSection·id="167992"·lang="nl"> |
| | 521581 | ··············<TextSectionType·id="16907"> |
| | 521582 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 521583 | ··············</TextSectionType> |
| | 521584 | ··············<Contents>Een·zeldzaam·primair·lymfoedeem,·gekarakteriseerd·door·een·zeer·variabel·lymfatisch·fenotype,·gaande·van·ernstige·lymfe-gerelateerde·hydrops·foetalis,·die·perinataal·overlijden·kan·veroorzaken·of·die·kan·verdwijnen·en·volledig·asymptomatisch·worden,·tot·een·milde·presentatie·bij·oudere·patiënten·met·persisterende·spataders,·perifeer·oedeem,·en·verstoorde·drainage·van·lymfe·in·onderste·ledematen.·Associatie·van·atriumseptumdefect·werd·reeds·beschreven,·en·bij·sommige·patiënten·kan·dit·de·enige·anomalie·zijn.</Contents> |
| | 521585 | ············</TextSection> |
| | 521586 | ··········</TextSectionList> |
| | 521587 | ········</SummaryInformation> |
| 521469 | ······</SummaryInformationList> | 521588 | ······</SummaryInformationList> |
| 521470 | ····</Disorder> | 521589 | ····</Disorder> |
| 521471 | ····<Disorder·id="11012"> | 521590 | ····<Disorder·id="11012"> |
| ⋮ | ⋮ |
| 521603 | ······</ExternalReferenceList> | 521722 | ······</ExternalReferenceList> |
| 521604 | ······<DisorderDisorderAssociationList·count="0"> | 521723 | ······<DisorderDisorderAssociationList·count="0"> |
| 521605 | ······</DisorderDisorderAssociationList> | 521724 | ······</DisorderDisorderAssociationList> |
| 521606 | ······<SummaryInformationList·count="0"> | 521725 | ······<SummaryInformationList·count="1"> |
| | 521726 | ········<SummaryInformation·id="129008"·lang="nl"> |
| | 521727 | ··········<TextSectionList·count="1"> |
| | 521728 | ············<TextSection·id="167932"·lang="nl"> |
| | 521729 | ··············<TextSectionType·id="16907"> |
| | 521730 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 521731 | ··············</TextSectionType> |
| | 521732 | ··············<Contents>Een·zeldzaam,·genetisch·primair·lymfoedeem,·gekarakteriseerd·door·uniform,·wijdverspreid·lymfoedeem,·vaak·met·systemische·betrokkenheid·zoals·intestinale·en·pulmonale·lymfangiëctasie,·pleurale·en·pericardiale·effusies,·en·chylothorax.·Er·is·een·hoge·incidentie·van·niet-immune·hydrops·foetalis,·die·kan·resulteren·in·doodgeboorte·of·volledig·kan·verdwijnen·na·de·geboorte.·Bij·sommige·patiënten·wordt·ernstige,·recidiverende·faciale·cellulitis·waargenomen.·Aanwezigheid·van·epicanthusplooien·of·micrognathie·werd·occasioneel·gerapporteerd,·terwijl·intelligentie·normaal·is·en·insulten·afwezig·zijn.</Contents> |
| | 521733 | ············</TextSection> |
| | 521734 | ··········</TextSectionList> |
| | 521735 | ········</SummaryInformation> |
| 521607 | ······</SummaryInformationList> | 521736 | ······</SummaryInformationList> |
| 521608 | ····</Disorder> | 521737 | ····</Disorder> |
| 521609 | ····<Disorder·id="11013"> | 521738 | ····<Disorder·id="11013"> |
| ⋮ | ⋮ |
| 521868 | ······</ExternalReferenceList> | 521997 | ······</ExternalReferenceList> |
| 521869 | ······<DisorderDisorderAssociationList·count="0"> | 521998 | ······<DisorderDisorderAssociationList·count="0"> |
| 521870 | ······</DisorderDisorderAssociationList> | 521999 | ······</DisorderDisorderAssociationList> |
| 521871 | ······<SummaryInformationList·count="0"> | 522000 | ······<SummaryInformationList·count="1"> |
| | 522001 | ········<SummaryInformation·id="129009"·lang="nl"> |
| | 522002 | ··········<TextSectionList·count="1"> |
| | 522003 | ············<TextSection·id="167933"·lang="nl"> |
| | 522004 | ··············<TextSectionType·id="16907"> |
| | 522005 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 522006 | ··············</TextSectionType> |
| | 522007 | ··············<Contents>Een·zeldzaam·primair·lymfoedeem,·gekarakteriseerd·door·uitgebreid,·multisegmentaal·lymfoedeem,·geassocieerd·met·persisterende,·wijdverspreide·infecties·met·verschillende·genitale·hoog-·en·laag-risico·humane·papillomavirussen,·en·resulterend·in·multifocale·anogenitale·dysplasie.·Laboratoriumonderzoeken·tonen·afwijkingen·van·bepaalde·lymfocyten,·vooral·CD4+·T-cellen.·Epidermale·naevi·en·capillaire·malformaties·werden·ook·reeds·gerapporteerd.</Contents> |
| | 522008 | ············</TextSection> |
| | 522009 | ··········</TextSectionList> |
| | 522010 | ········</SummaryInformation> |
| 521872 | ······</SummaryInformationList> | 522011 | ······</SummaryInformationList> |
| 521873 | ····</Disorder> | 522012 | ····</Disorder> |
| 521874 | ····<Disorder·id="28610"> | 522013 | ····<Disorder·id="28610"> |
| ⋮ | ⋮ |
| 521893 | ······</ExternalReferenceList> | 522032 | ······</ExternalReferenceList> |
| 521894 | ······<DisorderDisorderAssociationList·count="0"> | 522033 | ······<DisorderDisorderAssociationList·count="0"> |
| 521895 | ······</DisorderDisorderAssociationList> | 522034 | ······</DisorderDisorderAssociationList> |
| 521896 | ······<SummaryInformationList·count="0"> | 522035 | ······<SummaryInformationList·count="1"> |
| | 522036 | ········<SummaryInformation·id="129121"·lang="nl"> |
| | 522037 | ··········<TextSectionList·count="1"> |
| | 522038 | ············<TextSection·id="167974"·lang="nl"> |
| | 522039 | ··············<TextSectionType·id="16907"> |
| | 522040 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 522041 | ··············</TextSectionType> |
| | 522042 | ··············<Contents>Een·zeldzaam,·genetisch·primair·lymfoedeem,·gekarakteriseerd·door·lymfoedeem·in·alle·vier·de·ledematen·met·een·aanvangsleeftijd·gaande·van·de·geboorte·tot·de·volwassenheid.·Manifestaties·hebben·variabele·gradaties·van·ernst,·en·betrokkenheid·van·bovenste·ledematen·treedt·mogelijk·pas·later·in·het·ziekteverloop·op.·Recidiverende·episodes·van·cellulitis·en·huidinfecties·worden·waargenomen·in·ernstige·gevallen.·Associatie·van·spataders·en·veneuze·insufficiëntie·werd·ook·reeds·gerapporteerd.</Contents> |
| | 522043 | ············</TextSection> |
| | 522044 | ··········</TextSectionList> |
| | 522045 | ········</SummaryInformation> |
| 521897 | ······</SummaryInformationList> | 522046 | ······</SummaryInformationList> |
| 521898 | ····</Disorder> | 522047 | ····</Disorder> |
| 521899 | ····<Disorder·id="11011"> | 522048 | ····<Disorder·id="11011"> |
| 521900 | ······<OrphaCode>71289</OrphaCode> | 522049 | ······<OrphaCode>71289</OrphaCode> |
| 521901 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=71289</ExpertLink> | 522050 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=71289</ExpertLink> |
| 521902 | ······<Name·lang="nl">Radio-ulnaire·synostose·-·amegakaryocytische·trombocytopenie-syndroom</Name> | 522051 | ······<Name·lang="nl">Radio-ulnaire·synostose·-·amegakaryocytaire·trombocytopenie-syndroom</Name> |
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| ⋮ | ⋮ |
| 522054 | ····<Disorder·id="11021"> | 522203 | ····<Disorder·id="11021"> |
| 522055 | ······<OrphaCode>71528</OrphaCode> | 522204 | ······<OrphaCode>71528</OrphaCode> |
| 522056 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=71528</ExpertLink> | 522205 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=71528</ExpertLink> |
| 522057 | ······<Name·lang="nl">Obesitas·als·gevolg·van·prohormoonconvertase-I-deficiëntie</Name> | 522206 | ······<Name·lang="nl">Obesitas·door·deficiëntie·van·prohormoonconvertase·I</Name> |
| 522058 | ······<DisorderFlagList·count="1"> | 522207 | ······<DisorderFlagList·count="1"> |
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| 522060 | ··········<Value>1</Value> | 522209 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 522114 | ····<Disorder·id="11022"> | 522263 | ····<Disorder·id="11022"> |
| 522115 | ······<OrphaCode>71529</OrphaCode> | 522264 | ······<OrphaCode>71529</OrphaCode> |
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| 522120 | ··········<Value>1</Value> | 522269 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 524069 | ······</ExternalReferenceList> | 524218 | ······</ExternalReferenceList> |
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| 524071 | ······</DisorderDisorderAssociationList> | 524220 | ······</DisorderDisorderAssociationList> |
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| 524073 | ········<SummaryInformation·id="-1"·lang="nl"> | |
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| 524081 | ····</Disorder> | 524223 | ····</Disorder> |
| 524082 | ····<Disorder·id="27660"> | 524224 | ····<Disorder·id="27660"> |
| ⋮ | ⋮ |
| 525136 | ······</ExternalReferenceList> | 525278 | ······</ExternalReferenceList> |
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| 525138 | ······</DisorderDisorderAssociationList> | 525280 | ······</DisorderDisorderAssociationList> |
| 525139 | ······<SummaryInformationList·count="1"> | 525281 | ······<SummaryInformationList·count="0"> |
| 525140 | ········<SummaryInformation·id="-1"·lang="nl"> | |
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| 525145 | ··········</TextAuto> | |
| 525146 | ········</SummaryInformation> | |
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| 525149 | ····<Disorder·id="10475"> | 525284 | ····<Disorder·id="10475"> |
| ⋮ | ⋮ |
| 526912 | ····<Disorder·id="10380"> | 527047 | ····<Disorder·id="10380"> |
| 526913 | ······<OrphaCode>35656</OrphaCode> | 527048 | ······<OrphaCode>35656</OrphaCode> |
| 526914 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=35656</ExpertLink> | 527049 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=35656</ExpertLink> |
| 526915 | ······<Name·lang="nl">Co-enzym·Q10-deficiëntie</Name> | 527050 | ······<Name·lang="nl">Deficiëntie·van·co-enzym·Q10</Name> |
| 526916 | ······<DisorderFlagList·count="1"> | 527051 | ······<DisorderFlagList·count="1"> |
| 526917 | ········<DisorderFlag·id="475"> | 527052 | ········<DisorderFlag·id="475"> |
| 526918 | ··········<Value>1</Value> | 527053 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 527384 | ········<DisorderDisorderAssociation> | 527519 | ········<DisorderDisorderAssociation> |
| 527385 | ··········<TargetDisorder·id="10987"> | 527520 | ··········<TargetDisorder·id="10987"> |
| 527386 | ············<OrphaCode>71212</OrphaCode> | 527521 | ············<OrphaCode>71212</OrphaCode> |
| 527387 | ············<Name·lang="nl">Hyperinsulinisme·als·gevolg·van·korte·keten·3-hydroxylacyl-CoA-dehydrogenasedeficiëntie</Name> | 527522 | ············<Name·lang="nl">Hyperinsulinisme·door·deficiëntie·van·korte-keten-3-hydroxylacyl-CoA-dehydrogenase</Name> |
| 527388 | ··········</TargetDisorder> | 527523 | ··········</TargetDisorder> |
| 527389 | ··········<RootDisorder·id="10374"·cycle="true"/> | 527524 | ··········<RootDisorder·id="10374"·cycle="true"/> |
| 527390 | ··········<DisorderDisorderAssociationType·id="27341"> | 527525 | ··········<DisorderDisorderAssociationType·id="27341"> |
| ⋮ | ⋮ |
| 527637 | ····<Disorder·id="10424"> | 527772 | ····<Disorder·id="10424"> |
| 527638 | ······<OrphaCode>36387</OrphaCode> | 527773 | ······<OrphaCode>36387</OrphaCode> |
| 527639 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=36387</ExpertLink> | 527774 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=36387</ExpertLink> |
| 527640 | ······<Name·lang="nl">Gegeneraliseerde·epilepsie·met·febriele·aanvallen·-·plus</Name> | 527775 | ······<Name·lang="nl">Gegeneraliseerde·epilepsie·met·febriele·aanvallen·plus</Name> |
| 527641 | ······<DisorderFlagList·count="1"> | 527776 | ······<DisorderFlagList·count="1"> |
| 527642 | ········<DisorderFlag·id="475"> | 527777 | ········<DisorderFlag·id="475"> |
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| ⋮ | ⋮ |
| 528557 | ··········<Label></Label> | 528692 | ··········<Label></Label> |
| 528558 | ········</DisorderFlag> | 528693 | ········</DisorderFlag> |
| 528559 | ······</DisorderFlagList> | 528694 | ······</DisorderFlagList> |
| 528560 | ······<SynonymList·count="3"> | 528695 | ······<SynonymList·count="2"> |
| 528561 | ········<Synonym·lang="nl">Erfelijke·sensorische·en·autonome·neuropathie·type·I</Synonym> | 528696 | ········<Synonym·lang="nl">Erfelijke·sensorische·en·autonome·neuropathie·type·I</Synonym> |
| 528562 | ········<Synonym·lang="nl">HSAN·1</Synonym> | 528697 | ········<Synonym·lang="nl">HSAN·1</Synonym> |
| 528563 | ········<Synonym·lang="nl">Hereditaire·sensorische·en·autonome·neuropathie·type·1</Synonym> | |
| 528564 | ······</SynonymList> | 528698 | ······</SynonymList> |
| 528565 | ······<DisorderType·id="21394"> | 528699 | ······<DisorderType·id="21394"> |
| 528566 | ········<Name·lang="nl">Ziekte</Name> | 528700 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 534134 | ··············<TextSectionType·id="16907"> | 534268 | ··············<TextSectionType·id="16907"> |
| 534135 | ················<Name·lang="nl">Definitie·ziekte</Name> | 534269 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 534136 | ··············</TextSectionType> | 534270 | ··············</TextSectionType> |
| 534137 | ··············<Contents>Een·zeldzame·stoornis·van·het·bindweefsel·waarvan·drie·types·bestaan,·gerelateerd·aan·het·gen·<i>B4GALT7</i>,·het·gen·<i>B3GALT6</i>·of·het·gen·<i>SLC39A13</i>,·en·die·overlappende·klinische·kenmerken·vertonen,·waaronder·kleine·gestalte·(progressief·in·de·kindertijd),·zachte,·deegachtige,·dunne,·hyperelastische·huid,·musculaire·hypotonie·(gaande·van·congenitaal·ernstig·tot·mild·met·latere·aanvang),·pes·planus/equinovarus/valgus·en,·meer·variabel,·osteopenie,·cognitieve·en·motorische·ontwikkelingsachterstand,·en·buiging·van·de·ledematen.·Genspecifieke·kenmerken,·met·variabele·presentatie,·worden·bijkomend·geobserveerd·in·elk·subtype.</Contents> | 534271 | ··············<Contents>Een·zeldzame·aandoening·van·bindweefsel·waarvan·drie·subtypes·bestaan,·gerelateerd·aan·het·gen·<i>B4GALT7</i>,·<i>B3GALT6</i>·of·<i>SLC39A13</i>,·en·met·als·klinisch·overlappende·kenmerken·onder·meer·kleine·gestalte·(progressief·in·de·kindertijd),·hypermobiliteit·van·kleine·gewrichten,·hyperelastische·huid·en·zachte,·deegachtige·huid·op·vooral·handen·en·voeten,·spierhypotonie·(gaande·van·congenitaal·ernstig·tot·mild·met·latere·aanvang),·skeletanomalieën,·en,·variabeler,·osteopenie,·motorische·ontwikkelingsachterstand,·en·kromstand·van·ledematen.·Genspecifieke·kenmerken,·met·variabele·presentatie,·worden·bijkomend·geobserveerd·bij·elk·subtype.</Contents> |
| 534138 | ············</TextSection> | 534272 | ············</TextSection> |
| 534139 | ··········</TextSectionList> | 534273 | ··········</TextSectionList> |
| 534140 | ········</SummaryInformation> | 534274 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 534198 | ··············<TextSectionType·id="16907"> | 534332 | ··············<TextSectionType·id="16907"> |
| 534199 | ················<Name·lang="nl">Definitie·ziekte</Name> | 534333 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 534200 | ··············</TextSectionType> | 534334 | ··············</TextSectionType> |
| 534201 | ··············<Contents>Een·zeldzaam·subtype·van·spondylodysplastisch·syndroom·van·Ehlers-Danlos,·gekarakteriseerd·door·kleine·gestalte,·variabele·gradaties·van·spierhypotonie,·en·verkromming·van·ledematen.·Bijkomende·kenmerken·zijn·onder·meer·typische·radiografische·bevindingen·(zoals·platyspondylie,·anterieure·protrusie·van·wervellichamen,·korte·ilia,·verbreding·van·metafysen,·en·gegeneraliseerde·osteoporose),·hyperelastische·huid,·zachte·en·deegachtige·huid,·dunne·doorschijnende·huid,·vertraagde·motorische·en/of·cognitieve·ontwikkeling,·kyfoscoliose,·gewrichtshypermobiliteit·(gegeneraliseerd·of·beperkt·tot·distale·gewrichten),·typische·craniofaciale·kenmerken·(zoals·hypoplasie·van·middengezicht,·blauwe·sclerae,·boller·voorhoofd,·ingezakte·neusbrug,·laagstaande·oren,·micrognathie,·abnormaal·gebit),·gewrichtscontracturen,·aneurysma·van·stijgende·aorta,·en·hypoplasie·van·long.·Moleculair·testen·is·vereist·om·de·diagnose·te·bevestigen.</Contents> | 534335 | ··············<Contents>Een·vorm·van·spondylodysplastisch·syndroom·van·Ehlers-Danlos,·veroorzaakt·door·varianten·in·<i>B3GALT6</i>·en·gekarakteriseerd·door·kleine·gestalte,·variabele·gradaties·van·spierhypotonie,·gewrichtshypermobiliteit,·vooral·van·de·handen,·kromstand·van·ledematen,·en·congenitale·of·vroeg·optredende,·progressieve·kyfoscoliose.·Bijkomende·kenmerken·zijn·onder·meer·een·typisch·craniofaciaal·uiterlijk·(prominent·voorhoofd,·schaars·haar,·hypoplasie·van·middengezicht,·blauwe·sclerae,·proptosis,·en·abnormale·dentitie),·hyperelastische,·zachte,·dunne,·doorschijnende·en·deegachtige·huid,·motorische·en/of·cognitieve·ontwikkelingsachterstand,·kenmerkende·radiografische·bevindingen·(spondylo-epimetafysaire·dysplasie,·platyspondylie,·anterieure·'beak'·van·wervellichaam,·korte·ilia,·standsafwijking·van·elleboog,·en·gegeneraliseerde·osteoporose),·gewrichtscontracturen,·en·aneurysma·van·aorta·ascendens.</Contents> |
| 534202 | ············</TextSection> | 534336 | ············</TextSection> |
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| 534204 | ········</SummaryInformation> | 534338 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 537670 | ··········</DisorderDisorderAssociationType> | 537804 | ··········</DisorderDisorderAssociationType> |
| 537671 | ········</DisorderDisorderAssociation> | 537805 | ········</DisorderDisorderAssociation> |
| 537672 | ······</DisorderDisorderAssociationList> | 537806 | ······</DisorderDisorderAssociationList> |
| 537673 | ······<SummaryInformationList·count="1"> | 537807 | ······<SummaryInformationList·count="0"> |
| 537674 | ········<SummaryInformation·id="-1"·lang="nl"> | |
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| 537682 | ····</Disorder> | 537809 | ····</Disorder> |
| 537683 | ····<Disorder·id="10745"> | 537810 | ····<Disorder·id="10745"> |
| ⋮ | ⋮ |
| 541314 | ······</ExternalReferenceList> | 541441 | ······</ExternalReferenceList> |
| 541315 | ······<DisorderDisorderAssociationList·count="0"> | 541442 | ······<DisorderDisorderAssociationList·count="0"> |
| 541316 | ······</DisorderDisorderAssociationList> | 541443 | ······</DisorderDisorderAssociationList> |
| 541317 | ······<SummaryInformationList·count="0"> | 541444 | ······<SummaryInformationList·count="1"> |
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| | 541451 | ··············<Contents>Een·zeldzame·partiele·autosomale·monosomie,·gekarakteriseerd·door·algehele·ontwikkelingsachterstand,·intellectuele·achterstand,·multipele·kraakbenige·exostosen,·en·craniofaciale·anomalieën·(zoals·brachycefalie,·foramen·biparietale,·grote·fontanellen,·craniosynostose,·ptosis,·epicanthusplooien,·prominente·neusbrug·met·brede·en·ingedrukte·neuspunt,·hypoplastische·neusgaten,·kort·filtrum,·naar·beneden·gekeerde·bovenlip,·en·micrognathie).·Bijkomende·kenmerken·die·werden·gerapporteerd,·zijn·onder·meer·gedragsafwijkingen,·myopie,·strabisme,·en·sensorineuraal·gehoorverlies.</Contents> |
| | 541452 | ············</TextSection> |
| | 541453 | ··········</TextSectionList> |
| | 541454 | ········</SummaryInformation> |
| 541318 | ······</SummaryInformationList> | 541455 | ······</SummaryInformationList> |
| 541319 | ····</Disorder> | 541456 | ····</Disorder> |
| 541320 | ····<Disorder·id="10685"> | 541457 | ····<Disorder·id="10685"> |
| ⋮ | ⋮ |
| 544054 | ····<Disorder·id="28070"> | 544191 | ····<Disorder·id="28070"> |
| 544055 | ······<OrphaCode>544254</OrphaCode> | 544192 | ······<OrphaCode>544254</OrphaCode> |
| 544056 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=544254</ExpertLink> | 544193 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=544254</ExpertLink> |
| 544057 | ······<Name·lang="nl">SYNGAP1-gerelateerde·ontwikkelings-·en·epileptische·encefalopathie</Name> | 544194 | ······<Name·lang="nl">SYNGAP1-gerelateerde·ontwikkelingsachterstand·en·epileptische·encefalopathie</Name> |
| 544058 | ······<DisorderFlagList·count="1"> | 544195 | ······<DisorderFlagList·count="1"> |
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| 544060 | ··········<Value>1</Value> | 544197 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 544455 | ······</ExternalReferenceList> | 544592 | ······</ExternalReferenceList> |
| 544456 | ······<DisorderDisorderAssociationList·count="0"> | 544593 | ······<DisorderDisorderAssociationList·count="0"> |
| 544457 | ······</DisorderDisorderAssociationList> | 544594 | ······</DisorderDisorderAssociationList> |
| 544458 | ······<SummaryInformationList·count="1"> | 544595 | ······<SummaryInformationList·count="0"> |
| 544459 | ········<SummaryInformation·id="-1"·lang="nl"> | |
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| 544461 | ··········</TextSectionList> | |
| 544462 | ··········<TextAuto> | |
| 544463 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 544464 | ··········</TextAuto> | |
| 544465 | ········</SummaryInformation> | |
| 544466 | ······</SummaryInformationList> | 544596 | ······</SummaryInformationList> |
| 544467 | ····</Disorder> | 544597 | ····</Disorder> |
| 544468 | ····<Disorder·id="10592"> | 544598 | ····<Disorder·id="10592"> |
| ⋮ | ⋮ |
| 544676 | ······</ExternalReferenceList> | 544806 | ······</ExternalReferenceList> |
| 544677 | ······<DisorderDisorderAssociationList·count="0"> | 544807 | ······<DisorderDisorderAssociationList·count="0"> |
| 544678 | ······</DisorderDisorderAssociationList> | 544808 | ······</DisorderDisorderAssociationList> |
| 544679 | ······<SummaryInformationList·count="1"> | 544809 | ······<SummaryInformationList·count="0"> |
| 544680 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 544681 | ··········<TextSectionList·count="0"> | |
| 544682 | ··········</TextSectionList> | |
| 544683 | ··········<TextAuto> | |
| 544684 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 544685 | ··········</TextAuto> | |
| 544686 | ········</SummaryInformation> | |
| 544687 | ······</SummaryInformationList> | 544810 | ······</SummaryInformationList> |
| 544688 | ····</Disorder> | 544811 | ····</Disorder> |
| 544689 | ····<Disorder·id="10607"> | 544812 | ····<Disorder·id="10607"> |
| ⋮ | ⋮ |
| 547626 | ······</ExternalReferenceList> | 547749 | ······</ExternalReferenceList> |
| 547627 | ······<DisorderDisorderAssociationList·count="0"> | 547750 | ······<DisorderDisorderAssociationList·count="0"> |
| 547628 | ······</DisorderDisorderAssociationList> | 547751 | ······</DisorderDisorderAssociationList> |
| 547629 | ······<SummaryInformationList·count="1"> | 547752 | ······<SummaryInformationList·count="0"> |
| 547630 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 547631 | ··········<TextSectionList·count="0"> | |
| 547632 | ··········</TextSectionList> | |
| 547633 | ··········<TextAuto> | |
| 547634 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 547635 | ··········</TextAuto> | |
| 547636 | ········</SummaryInformation> | |
| 547637 | ······</SummaryInformationList> | 547753 | ······</SummaryInformationList> |
| 547638 | ····</Disorder> | 547754 | ····</Disorder> |
| 547639 | ····<Disorder·id="28123"> | 547755 | ····<Disorder·id="28123"> |
| ⋮ | ⋮ |
| 548597 | ······</ExternalReferenceList> | 548713 | ······</ExternalReferenceList> |
| 548598 | ······<DisorderDisorderAssociationList·count="0"> | 548714 | ······<DisorderDisorderAssociationList·count="0"> |
| 548599 | ······</DisorderDisorderAssociationList> | 548715 | ······</DisorderDisorderAssociationList> |
| 548600 | ······<SummaryInformationList·count="1"> | 548716 | ······<SummaryInformationList·count="0"> |
| 548601 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 548602 | ··········<TextSectionList·count="0"> | |
| 548603 | ··········</TextSectionList> | |
| 548604 | ··········<TextAuto> | |
| 548605 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 548606 | ··········</TextAuto> | |
| 548607 | ········</SummaryInformation> | |
| 548608 | ······</SummaryInformationList> | 548717 | ······</SummaryInformationList> |
| 548609 | ····</Disorder> | 548718 | ····</Disorder> |
| 548610 | ····<Disorder·id="27249"> | 548719 | ····<Disorder·id="27249"> |
| ⋮ | ⋮ |
| 551858 | ····<Disorder·id="11934"> | 551967 | ····<Disorder·id="11934"> |
| 551859 | ······<OrphaCode>90037</OrphaCode> | 551968 | ······<OrphaCode>90037</OrphaCode> |
| 551860 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=90037</ExpertLink> | 551969 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=90037</ExpertLink> |
| 551861 | ······<Name·lang="nl">Geneesmiddel-geïnduceerde·auto-immune·hemolytische·anemie</Name> | 551970 | ······<Name·lang="nl">Geneesmiddelgeïnduceerde·auto-immuun·hemolytische·anemie</Name> |
| 551862 | ······<DisorderFlagList·count="1"> | 551971 | ······<DisorderFlagList·count="1"> |
| 551863 | ········<DisorderFlag·id="475"> | 551972 | ········<DisorderFlag·id="475"> |
| 551864 | ··········<Value>1</Value> | 551973 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 551866 | ········</DisorderFlag> | 551975 | ········</DisorderFlag> |
| 551867 | ······</DisorderFlagList> | 551976 | ······</DisorderFlagList> |
| 551868 | ······<SynonymList·count="1"> | 551977 | ······<SynonymList·count="1"> |
| 551869 | ········<Synonym·lang="nl">Geneesmiddel-geïnduceerde·AIHA</Synonym> | 551978 | ········<Synonym·lang="nl">Geneesmiddelgeïnduceerde·AIHA</Synonym> |
| 551870 | ······</SynonymList> | 551979 | ······</SynonymList> |
| 551871 | ······<DisorderType·id="21394"> | 551980 | ······<DisorderType·id="21394"> |
| 551872 | ········<Name·lang="nl">Ziekte</Name> | 551981 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 552016 | ········</DisorderFlag> | 552125 | ········</DisorderFlag> |
| 552017 | ······</DisorderFlagList> | 552126 | ······</DisorderFlagList> |
| 552018 | ······<SynonymList·count="3"> | 552127 | ······<SynonymList·count="3"> |
| 552019 | ········<Synonym·lang="nl">Donath-Landsteiner·hemolytische·anemie</Synonym> | 552128 | ········<Synonym·lang="nl">Hemolytische·anemie·van·Donath-Landsteiner</Synonym> |
| 552020 | ········<Synonym·lang="nl">Donath-Landsteinersyndroom</Synonym> | |
| 552021 | ········<Synonym·lang="nl">PCH</Synonym> | 552129 | ········<Synonym·lang="nl">PCH</Synonym> |
| | 552130 | ········<Synonym·lang="nl">Syndroom·van·Donath-Landsteiner</Synonym> |
| 552022 | ······</SynonymList> | 552131 | ······</SynonymList> |
| 552023 | ······<DisorderType·id="21394"> | 552132 | ······<DisorderType·id="21394"> |
| 552024 | ········<Name·lang="nl">Ziekte</Name> | 552133 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 552157 | ····<Disorder·id="11933"> | 552266 | ····<Disorder·id="11933"> |
| 552158 | ······<OrphaCode>90036</OrphaCode> | 552267 | ······<OrphaCode>90036</OrphaCode> |
| 552159 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=90036</ExpertLink> | 552268 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=90036</ExpertLink> |
| 552160 | ······<Name·lang="nl">Auto-immune·hemolytische·anemie·van·het·gemengde·type</Name> | 552269 | ······<Name·lang="nl">Auto-immuun·hemolytische·anemie,·gemengd·type</Name> |
| 552161 | ······<DisorderFlagList·count="1"> | 552270 | ······<DisorderFlagList·count="1"> |
| 552162 | ········<DisorderFlag·id="475"> | 552271 | ········<DisorderFlag·id="475"> |
| 552163 | ··········<Value>1</Value> | 552272 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 552331 | ····<Disorder·id="11931"> | 552440 | ····<Disorder·id="11931"> |
| 552332 | ······<OrphaCode>90033</OrphaCode> | 552441 | ······<OrphaCode>90033</OrphaCode> |
| 552333 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=90033</ExpertLink> | 552442 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=90033</ExpertLink> |
| 552334 | ······<Name·lang="nl">Auto-immune·hemolytische·anemie,·warm·type</Name> | 552443 | ······<Name·lang="nl">Auto-immuun·hemolytische·anemie,·warm·type</Name> |
| 552335 | ······<DisorderFlagList·count="1"> | 552444 | ······<DisorderFlagList·count="1"> |
| 552336 | ········<DisorderFlag·id="475"> | 552445 | ········<DisorderFlag·id="475"> |
| 552337 | ··········<Value>1</Value> | 552446 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 553224 | ··········<Label>Obsolete·entity</Label> | 553333 | ··········<Label>Obsolete·entity</Label> |
| 553225 | ········</DisorderFlag> | 553334 | ········</DisorderFlag> |
| 553226 | ······</DisorderFlagList> | 553335 | ······</DisorderFlagList> |
| 553227 | ······<SynonymList·count="4"> | 553336 | ······<SynonymList·count="3"> |
| 553228 | ········<Synonym·lang="nl">Centripetale·dystrofische·epidermolysis·bullosa</Synonym> | 553337 | ········<Synonym·lang="nl">Centripetale·dystrofische·epidermolysis·bullosa</Synonym> |
| 553229 | ········<Synonym·lang="nl">Centripetale·recessieve·dystrofische·epidermolysis·bullosa</Synonym> | 553338 | ········<Synonym·lang="nl">Centripetale·recessieve·dystrofische·epidermolysis·bullosa</Synonym> |
| 553230 | ········<Synonym·lang="nl">RDEB,·centripetalis</Synonym> | 553339 | ········<Synonym·lang="nl">RDEB,·centripetalis</Synonym> |
| 553231 | ········<Synonym·lang="nl">RDEB-Ce</Synonym> | |
| 553232 | ······</SynonymList> | 553340 | ······</SynonymList> |
| 553233 | ······<DisorderType·id="21394"> | 553341 | ······<DisorderType·id="21394"> |
| 553234 | ········<Name·lang="nl">Ziekte</Name> | 553342 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 554278 | ····<Disorder·id="12020"> | 554386 | ····<Disorder·id="12020"> |
| 554279 | ······<OrphaCode>90342</OrphaCode> | 554387 | ······<OrphaCode>90342</OrphaCode> |
| 554280 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=90342</ExpertLink> | 554388 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=90342</ExpertLink> |
| 554281 | ······<Name·lang="nl">Xeroderma·pigmentosum·variant</Name> | 554389 | ······<Name·lang="nl">Xeroderma·pigmentosum,·variante·vorm</Name> |
| 554282 | ······<DisorderFlagList·count="1"> | 554390 | ······<DisorderFlagList·count="1"> |
| 554283 | ········<DisorderFlag·id="475"> | 554391 | ········<DisorderFlag·id="475"> |
| 554284 | ··········<Value>1</Value> | 554392 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 557387 | ······</ExternalReferenceList> | 557495 | ······</ExternalReferenceList> |
| 557388 | ······<DisorderDisorderAssociationList·count="0"> | 557496 | ······<DisorderDisorderAssociationList·count="0"> |
| 557389 | ······</DisorderDisorderAssociationList> | 557497 | ······</DisorderDisorderAssociationList> |
| 557390 | ······<SummaryInformationList·count="1"> | 557498 | ······<SummaryInformationList·count="0"> |
| 557391 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 557392 | ··········<TextSectionList·count="0"> | |
| 557393 | ··········</TextSectionList> | |
| 557394 | ··········<TextAuto> | |
| 557395 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 557396 | ··········</TextAuto> | |
| 557397 | ········</SummaryInformation> | |
| 557398 | ······</SummaryInformationList> | 557499 | ······</SummaryInformationList> |
| 557399 | ····</Disorder> | 557500 | ····</Disorder> |
| 557400 | ····<Disorder·id="11981"> | 557501 | ····<Disorder·id="11981"> |
| ⋮ | ⋮ |
| 557877 | ······</ExternalReferenceList> | 557978 | ······</ExternalReferenceList> |
| 557878 | ······<DisorderDisorderAssociationList·count="0"> | 557979 | ······<DisorderDisorderAssociationList·count="0"> |
| 557879 | ······</DisorderDisorderAssociationList> | 557980 | ······</DisorderDisorderAssociationList> |
| 557880 | ······<SummaryInformationList·count="1"> | 557981 | ······<SummaryInformationList·count="0"> |
| 557881 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 557882 | ··········<TextSectionList·count="0"> | |
| 557883 | ··········</TextSectionList> | |
| 557884 | ··········<TextAuto> | |
| 557885 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 557886 | ··········</TextAuto> | |
| 557887 | ········</SummaryInformation> | |
| 557888 | ······</SummaryInformationList> | 557982 | ······</SummaryInformationList> |
| 557889 | ····</Disorder> | 557983 | ····</Disorder> |
| 557890 | ····<Disorder·id="27378"> | 557984 | ····<Disorder·id="27378"> |
| ⋮ | ⋮ |
| 559375 | ········<DisorderDisorderAssociation> | 559469 | ········<DisorderDisorderAssociation> |
| 559376 | ··········<TargetDisorder·id="12138"> | 559470 | ··········<TargetDisorder·id="12138"> |
| 559377 | ············<OrphaCode>91387</OrphaCode> | 559471 | ············<OrphaCode>91387</OrphaCode> |
| 559378 | ············<Name·lang="nl">Familiaal·thoracaal·aorta-aneurysma</Name> | 559472 | ············<Name·lang="nl">Familiale·dissectie·en·aneurysma·van·thoracale·aorta</Name> |
| 559379 | ··········</TargetDisorder> | 559473 | ··········</TargetDisorder> |
| 559380 | ··········<RootDisorder·id="11815"·cycle="true"/> | 559474 | ··········<RootDisorder·id="11815"·cycle="true"/> |
| 559381 | ··········<DisorderDisorderAssociationType·id="21471"> | 559475 | ··········<DisorderDisorderAssociationType·id="21471"> |
| ⋮ | ⋮ |
| 559967 | ······</DisorderFlagList> | 560061 | ······</DisorderFlagList> |
| 559968 | ······<SynonymList·count="2"> | 560062 | ······<SynonymList·count="2"> |
| 559969 | ········<Synonym·lang="nl">ADANE</Synonym> | 560063 | ········<Synonym·lang="nl">ADANE</Synonym> |
| 559970 | ········<Synonym·lang="nl">Terugkerende·acute·necrotiserende·encefalopathie</Synonym> | 560064 | ········<Synonym·lang="nl">Recidiverende·acute·necrotiserende·encefalopathie</Synonym> |
| 559971 | ······</SynonymList> | 560065 | ······</SynonymList> |
| 559972 | ······<DisorderType·id="21394"> | 560066 | ······<DisorderType·id="21394"> |
| 559973 | ········<Name·lang="nl">Ziekte</Name> | 560067 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 564899 | ····<Disorder·id="12199"> | 564993 | ····<Disorder·id="12199"> |
| 564900 | ······<OrphaCode>93256</OrphaCode> | 564994 | ······<OrphaCode>93256</OrphaCode> |
| 564901 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93256</ExpertLink> | 564995 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93256</ExpertLink> |
| 564902 | ······<Name·lang="nl">Fragiele·X-geassocieerd·tremor/ataxie-syndroom</Name> | 564996 | ······<Name·lang="nl">Fragiele-X-geassocieerd·tremor/ataxie-syndroom</Name> |
| 564903 | ······<DisorderFlagList·count="1"> | 564997 | ······<DisorderFlagList·count="1"> |
| 564904 | ········<DisorderFlag·id="475"> | 564998 | ········<DisorderFlag·id="475"> |
| 564905 | ··········<Value>1</Value> | 564999 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 566275 | ··············<TextSectionType·id="16907"> | 566369 | ··············<TextSectionType·id="16907"> |
| 566276 | ················<Name·lang="nl">Definitie·ziekte</Name> | 566370 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 566277 | ··············</TextSectionType> | 566371 | ··············</TextSectionType> |
| 566278 | ··············<Contents>Korte·rib·-·polydactylie-syndroom,·Verma-Naumoff-type,·is·een·korte·rib·-·polydactylie-syndroom·dat·gekarakteriseerd·wordt·door·dwerggroei·met·korte·ledematen,·korte·ribben·met·thoracale·dysplasie,·postaxiale·polydactylie·en·vooruitstekend·abdomen.·Geassocieerde·meervoudige·malformaties·zijn·onder·meer·cardiovasculaire·defecten,·renale·agenesie/hypoplasie,·abnormale·ontwikkeling·van·de·cloaca·(ambigue·genitaliën,·anusatresie)·en·cerebellaire·hypoplasie.·Korte·rib·-·polydactylie-syndroom,·Verma-Naumoff-type·volgt·een·autosomaal·recessief·overervingspatroon.·De·ziekte·is·meestal·fataal·in·de·perinatale·periode.</Contents> | 566372 | ··············<Contents>Een·zeldzame·ciliopathie·et·ernstige·betrokkenheid·van·skelet,·gekarakteriseerd·door·korte·ribben·en·extreem·smalle·thorax,·ernstig·verkorte·pijpbeenderen·met·ronde·metafysaire·uiteinden·en·laterale·spikes,·en·anomalieën·van·meerdere·organen·zoals·hart,·nier,·lever,·pancreas,·darm,·en·geslachtsorganen,·met·soms·optreden·van·situs·inversus·totalis.·Gespleten·lip/verhemelte·en·polydactylie·kunnen·ook·aanwezig·zijn.·Het·syndroom·is·fataal·in·de·prenatale·of·perinatale·periode.</Contents> |
| 566279 | ············</TextSection> | 566373 | ············</TextSection> |
| 566280 | ··········</TextSectionList> | 566374 | ··········</TextSectionList> |
| 566281 | ········</SummaryInformation> | 566375 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 566450 | ··············<TextSectionType·id="16907"> | 566544 | ··············<TextSectionType·id="16907"> |
| 566451 | ················<Name·lang="nl">Definitie·ziekte</Name> | 566545 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 566452 | ··············</TextSectionType> | 566546 | ··············</TextSectionType> |
| 566453 | ··············<Contents>Korte·rib·-·polydactylie-syndroom·(SRPS),·Saldino-Noonan-type,·is·een·uiterst·zeldzaam·type·van·SRPS·met·neonatale·aanvang,·en·wordt·gekarakteriseerd·door·polydactylie,·hydropisch·uiterlijk,·en·kleine·borstkas·met·korte·horizontale·ribben·die·fatale·cardiorespiratoire·problemen·veroorzaken.·Getroffen·patiënten·hebben·ook·extreme·micromelie,·puntige·metafysen,·en·een·waaier·aan·andere·defecten·van·de·ossificatie·(wervels·en·botten·van·de·schedel,·het·bekken,·de·handen·en·de·voeten).·Mogelijke·extraskeletale·manifestaties·zijn·onder·meer·polycystische·nieren,·transpositie·van·de·grote·bloedvaten,·en·atresie·van·de·gastro-intestinale·en·urogenitale·stelsels.</Contents> | 566547 | ··············<Contents>Een·zeldzame·ciliopathie·met·sterke·betrokkenheid·van·skelet,·gekarakteriseerd·door·korte·ribben·en·extreem·smalle·thorax,·zeer·korte·ledematen,·afwezige·of·zeer·kleine·fibulae,·ernstige·metafysaire·dysplasie·van·pijpbeenderen,·postaxiale·polydactylie,·en·gebrekkige·ossificatie·in·schedeldak,·wervels,·bekken,·en·botten·van·handen·en·voeten.·Congenitale·anomalieën·van·meerdere·andere·organen·werden·ook·reeds·beschreven,·zoals·polycystische·nieren,·transpositie·van·grote·bloedvaten,·en·atretische·laesies·van·gastro-intestinaal·en·urogenitaal·stelsel.·Mogelijk·wordt·hydrops·foetalis·waargenomen·op·vroege·gestatieleeftijd.</Contents> |
| 566454 | ············</TextSection> | 566548 | ············</TextSection> |
| 566455 | ··········</TextSectionList> | 566549 | ··········</TextSectionList> |
| 566456 | ········</SummaryInformation> | 566550 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 566592 | ··············<TextSectionType·id="16907"> | 566686 | ··············<TextSectionType·id="16907"> |
| 566593 | ················<Name·lang="nl">Definitie·ziekte</Name> | 566687 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 566594 | ··············</TextSectionType> | 566688 | ··············</TextSectionType> |
| 566595 | ··············<Contents>Korte·rib·-·polydactylie-syndroom·(SRPS),·Beemer-Langer-type,·is·een·uiterst·zeldzaam·type·van·SRPS·dat·prenataal·of·onmiddellijk·na·de·geboorte·ontwikkelt,·en·dat·gekarakteriseerd·wordt·door·korte·en·smalle·borstkas·met·horizontaal·georiënteerde·ribben.·Andere·botkenmerken·zijn·onder·meer·kleine·darmbeenderen,·korte·tubulaire·botten,·buiging·van·pijpbeenderen·en·in·zeldzame·gevallen·pre-·en·postaxiale·polydactylie.·Defecten·aan·de·hersenen·zijn·gangbaar·en·er·werden·enkele·gevallen·met·gespleten·lip,·afwezigheid·van·inwendige·genitaliën,·en·renale,·biliaire·en·pancreatische·cysten·gerapporteerd.·Het·verloop·is·snel·fataal.</Contents> | 566689 | ··············<Contents>Een·zeldzame·ciliopathie·met·prominente·betrokkenheid·van·skelet,·gekarakteriseerd·door·korte·ribben·en·hypoplastische·thorax,·kleine·darmbeenderen,·korte·pijpbeenderen·met·gladde·metafysaire·randen,·en·kromstand·van·radii·en·ulnae.·De·tibiae·zijn·relatief·buisvormig·en·langer·dan·de·fibulae.·Hersendefecten·komen·vaak·voor,·terwijl·postaxiale·polydactylie·zeldzaam·is.·Mogelijke·bijkomende·kenmerken·zijn·onder·meer·gespleten·lip,·afwezigheid·van·inwendige·geslachtsorganen,·en·cysten·van·nier,·galwegen·en·pancreas.</Contents> |
| 566596 | ············</TextSection> | 566690 | ············</TextSection> |
| 566597 | ··········</TextSectionList> | 566691 | ··········</TextSectionList> |
| 566598 | ········</SummaryInformation> | 566692 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 573266 | ····<Disorder·id="27637"> | 573360 | ····<Disorder·id="27637"> |
| 573267 | ······<OrphaCode>530033</OrphaCode> | 573361 | ······<OrphaCode>530033</OrphaCode> |
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| 573269 | ······<Name·lang="nl">Dermoïd-·of·epidermoïdcyste·van·het·centrale·zenuwstelsel</Name> | 573363 | ······<Name·lang="nl">Dermoïd-·of·epidermoïdcyste·van·centraal·zenuwstelsel</Name> |
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| 573276 | ······<SynonymList·count="1"> | 573370 | ······<SynonymList·count="1"> |
| 573277 | ········<Synonym·lang="nl">Dermoïd-·of·epidermoïdcyste·van·het·CZS</Synonym> | 573371 | ········<Synonym·lang="nl">Dermoïd-·of·epidermoïdcyste·van·CZS</Synonym> |
| 573278 | ······</SynonymList> | 573372 | ······</SynonymList> |
| 573279 | ······<DisorderType·id="21415"> | 573373 | ······<DisorderType·id="21415"> |
| 573280 | ········<Name·lang="nl">Morfologische·anomalie</Name> | 573374 | ········<Name·lang="nl">Morfologische·anomalie</Name> |
| ⋮ | ⋮ |
| 573286 | ······</ExternalReferenceList> | 573380 | ······</ExternalReferenceList> |
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| 573288 | ······</DisorderDisorderAssociationList> | 573382 | ······</DisorderDisorderAssociationList> |
| 573289 | ······<SummaryInformationList·count="0"> | 573383 | ······<SummaryInformationList·count="1"> |
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| | 573390 | ··············<Contents>Een·zeldzame·congenitale·tumor,·gekarakteriseerd·door·een·goedaardige·cyste·met·epitheliale·en·epidermoïde·componenten,·afkomstig·van·embryonale·verplaatsing·en·ectopische·groei·van·ectodermaal·weefsel·in·het·centrale·zenuwstelsel.·In·tegenstelling·tot·epidermoïdcysten·bevatten·dermoïdcysten·ook·adnexen·van·dermis·en·huid.·De·meest·gangbare·locatie·is·de·lumbosacrale·regio,·alsook·de·angulus·pontocerebellaris·(brughoek)·en·het·parasellaire·gebied·voor·intracraniële·laesies.·De·klinische·presentatie·hangt·af·van·de·locatie·en·de·omvang·van·de·tumor,·en·omvat·pijn,·spierzwakte,·motorische·en·sensorische·stoornissen,·en·incontinentie·voor·intraspinale·laesies,·en·intracraniële·hypertensie,·gangstoornissen,·disfunctie·van·hersenzenuwen,·en·visuele·stoornissen·voor·intracraniële·tumoren.·De·cysten·kunnen·scheuren·en·chemische·meningitis·veroorzaken.</Contents> |
| | 573391 | ············</TextSection> |
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| 573291 | ····</Disorder> | 573395 | ····</Disorder> |
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| ⋮ | ⋮ |
| 577097 | ····<Disorder·id="12138"> | 577201 | ····<Disorder·id="12138"> |
| 577098 | ······<OrphaCode>91387</OrphaCode> | 577202 | ······<OrphaCode>91387</OrphaCode> |
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| 577108 | ········<Synonym·lang="nl">Familiaal·thoracaal·aorta-aneurysma·en·-dissectie</Synonym> | 577212 | ········<Synonym·lang="nl">Familiale·TAAD</Synonym> |
| 577109 | ······</SynonymList> | 577213 | ······</SynonymList> |
| 577110 | ······<DisorderType·id="21394"> | 577214 | ······<DisorderType·id="21394"> |
| 577111 | ········<Name·lang="nl">Ziekte</Name> | 577215 | ········<Name·lang="nl">Ziekte</Name> |
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| 578238 | ····<Disorder·id="12133"> | 578342 | ····<Disorder·id="12133"> |
| 578239 | ······<OrphaCode>91359</OrphaCode> | 578343 | ······<OrphaCode>91359</OrphaCode> |
| 578240 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=91359</ExpertLink> | 578344 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=91359</ExpertLink> |
| 578241 | ······<Name·lang="nl">Chronische·pneumonitis·in·de·kinderjaren</Name> | 578345 | ······<Name·lang="nl">Chronische·pneumonitis·op·zuigelingenleeftijd</Name> |
| 578242 | ······<DisorderFlagList·count="1"> | 578346 | ······<DisorderFlagList·count="1"> |
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| 580715 | ····<Disorder·id="12100"> | 580819 | ····<Disorder·id="12100"> |
| 580716 | ······<OrphaCode>90797</OrphaCode> | 580820 | ······<OrphaCode>90797</OrphaCode> |
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| 580718 | ······<Name·lang="nl">Gedeeltelijke·androgeenongevoeligheidssyndroom</Name> | 580822 | ······<Name·lang="nl">Partieel·androgeenongevoeligheidssyndroom</Name> |
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| 580723 | ········</DisorderFlag> | 580827 | ········</DisorderFlag> |
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| 580725 | ······<SynonymList·count="4"> | 580829 | ······<SynonymList·count="2"> |
| 580726 | ········<Synonym·lang="nl">Gedeeltelijke·AOS</Synonym> | |
| 580727 | ········<Synonym·lang="nl">PAIS</Synonym> | 580830 | ········<Synonym·lang="nl">PAIS</Synonym> |
| 580728 | ········<Synonym·lang="nl">Partiële·androgeeninsensitiveitssyndroom</Synonym> | 580831 | ········<Synonym·lang="nl">Partieel·androgeenresistentiesyndroom</Synonym> |
| 580729 | ········<Synonym·lang="nl">Partiële·androgeenresistentiesyndroom</Synonym> | |
| 580730 | ······</SynonymList> | 580832 | ······</SynonymList> |
| 580731 | ······<DisorderType·id="21394"> | 580833 | ······<DisorderType·id="21394"> |
| 580732 | ········<Name·lang="nl">Ziekte</Name> | 580834 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 580904 | ······</ExternalReferenceList> | 581006 | ······</ExternalReferenceList> |
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| 580917 | ····<Disorder·id="12103"> | 581012 | ····<Disorder·id="12103"> |
| ⋮ | ⋮ |
| 581374 | ····<Disorder·id="12112"> | 581469 | ····<Disorder·id="12112"> |
| 581375 | ······<OrphaCode>91135</OrphaCode> | 581470 | ······<OrphaCode>91135</OrphaCode> |
| 581376 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=91135</ExpertLink> | 581471 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=91135</ExpertLink> |
| 581377 | ······<Name·lang="nl">Hyperlaxiteit·van·de·lichaamshuid·door·deficiëntie·van·vitamine·K-afhankelijke·coagulatiefactor</Name> | 581472 | ······<Name·lang="nl">Hyperlaxiteit·van·huid·door·deficiëntie·van·vitamine·K-afhankelijke·coagulatiefactor</Name> |
| 581378 | ······<DisorderFlagList·count="1"> | 581473 | ······<DisorderFlagList·count="1"> |
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| 581380 | ··········<Value>1</Value> | 581475 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 582306 | ······</ExternalReferenceList> | 582401 | ······</ExternalReferenceList> |
| 582307 | ······<DisorderDisorderAssociationList·count="0"> | 582402 | ······<DisorderDisorderAssociationList·count="0"> |
| 582308 | ······</DisorderDisorderAssociationList> | 582403 | ······</DisorderDisorderAssociationList> |
| 582309 | ······<SummaryInformationList·count="1"> | 582404 | ······<SummaryInformationList·count="0"> |
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| 582319 | ····<Disorder·id="11422"> | 582407 | ····<Disorder·id="11422"> |
| ⋮ | ⋮ |
| 585299 | ··············<TextSectionType·id="16907"> | 585387 | ··············<TextSectionType·id="16907"> |
| 585300 | ················<Name·lang="nl">Definitie·ziekte</Name> | 585388 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 585301 | ··············</TextSectionType> | 585389 | ··············</TextSectionType> |
| 585302 | ··············<Contents>Oculocutaan·albinisme·type·4·(OCA4)·is·een·type·OCA·(zie·deze·term)·dat·wordt·gekarakteriseerd·door·wisselende·gradaties·van·hypopigmentatie·van·de·huid·en·het·haar,·talrijke·oculaire·veranderingen·en·een·verkeerd·verloop·van·de·gezichtszenuwen·ter·hoogte·van·het·chiasma.</Contents> | 585390 | ··············<Contents>Een·vorm·van·oculocutaan·albinisme·(OCA),·gekarakteriseerd·door·variabele·gradaties·van·hypopigmentatie·van·huid·en·haar,·talrijke·oculaire·veranderingen,·en·een·verkeerd·verloop·van·de·oogzenuwen·ter·hoogte·van·het·chiasma.</Contents> |
| 585303 | ············</TextSection> | 585391 | ············</TextSection> |
| 585304 | ··········</TextSectionList> | 585392 | ··········</TextSectionList> |
| 585305 | ········</SummaryInformation> | 585393 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 585395 | ··············<TextSectionType·id="16907"> | 585483 | ··············<TextSectionType·id="16907"> |
| 585396 | ················<Name·lang="nl">Definitie·ziekte</Name> | 585484 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 585397 | ··············</TextSectionType> | 585485 | ··············</TextSectionType> |
| 585398 | ··············<Contents>Oculocutaan·albinisme·type·1B·(OCA1B)·is·een·type·OCA1·(zie·deze·term)·dat·wordt·gekarakteriseerd·door·hypopigmentatie·van·de·huid·en·het·haar,·nystagmus,·een·gereduceerde·hoeveelheid·pigment·in·het·regenboogvlies·en·het·netvlies,·en·een·verkeerd·verloop·van·de·gezichtszenuwen.</Contents> | 585486 | ··············<Contents>Een·vorm·van·oculocutaan·albinisme·type·1·(OCA1),·gekarakteriseerd·door·hypopigmentatie·van·huid·en·haar,·nystagmus,·een·gereduceerde·hoeveelheid·pigment·in·iris·en·retina,·en·een·verkeerd·verloop·van·de·oogzenuwen.</Contents> |
| 585399 | ············</TextSection> | 585487 | ············</TextSection> |
| 585400 | ··········</TextSectionList> | 585488 | ··········</TextSectionList> |
| 585401 | ········</SummaryInformation> | 585489 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 585525 | ··············<TextSectionType·id="16907"> | 585613 | ··············<TextSectionType·id="16907"> |
| 585526 | ················<Name·lang="nl">Definitie·ziekte</Name> | 585614 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 585527 | ··············</TextSectionType> | 585615 | ··············</TextSectionType> |
| 585528 | ··············<Contents>Oculocutaan·albinisme·type·3·(OCA3)·is·een·vorm·van·oculocutaan·albinisme·(OCA;·zie·deze·term)·die·wordt·gekarakteriseerd·door·rood·of·bruin·albinisme·en·vooral·voorkomt·in·de·Afrikaanse·populatie.</Contents> | 585616 | ··············<Contents>Een·vorm·van·oculocutaan·albinisme·(OCA),·gekarakteriseerd·door·rood·of·bruin·albinisme·en·vooral·optredend·in·de·Afrikaanse·populatie.</Contents> |
| 585529 | ············</TextSection> | 585617 | ············</TextSection> |
| 585530 | ··········</TextSectionList> | 585618 | ··········</TextSectionList> |
| 585531 | ········</SummaryInformation> | 585619 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 585619 | ··············<TextSectionType·id="16907"> | 585707 | ··············<TextSectionType·id="16907"> |
| 585620 | ················<Name·lang="nl">Definitie·ziekte</Name> | 585708 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 585621 | ··············</TextSectionType> | 585709 | ··············</TextSectionType> |
| 585622 | ··············<Contents>Oculocutaan·albinisme·type·2·(OCA2)·is·een·type·OCA·(zie·deze·term)·en·de·meest·voorkomende·vorm·van·OCA·in·de·Afrikaanse·populatie,·en·wordt·gekarakteriseerd·door·variabele·hypopigmentatie·van·de·huid·en·het·haar,·talrijke·kenmerkende·oculaire·veranderingen·en·een·verkeerd·verloop·van·de·gezichtszenuw·ter·hoogte·van·het·chiasma.</Contents> | 585710 | ··············<Contents>Een·vorm·van·oculocutaan·albinisme·(OCA),·gekarakteriseerd·door·variabele·hypopigmentatie·van·huid·en·haar,·talrijke·typische·oculaire·veranderingen,·en·een·verkeerd·verloop·van·de·oogzenuwen·ter·hoogte·van·het·chiasma.</Contents> |
| 585623 | ············</TextSection> | 585711 | ············</TextSection> |
| 585624 | ··········</TextSectionList> | 585712 | ··········</TextSectionList> |
| 585625 | ········</SummaryInformation> | 585713 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 585681 | ··············<TextSectionType·id="16907"> | 585769 | ··············<TextSectionType·id="16907"> |
| 585682 | ················<Name·lang="nl">Definitie·ziekte</Name> | 585770 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 585683 | ··············</TextSectionType> | 585771 | ··············</TextSectionType> |
| 585684 | ··············<Contents>Oculocutaan·albinisme·type·1A·(OCA1A)·is·de·ergste·vorm·van·OCA·(zie·deze·term),·waarbij·geen·melanine·wordt·aangemaakt,·en·wordt·gekarakteriseerd·door·wit·haar·en·witte·huid,·blauwe,·volledig·doorschijnende·irissen,·nystagmus,·en·verkeerd·verloop·van·de·gezichtszenuwen.</Contents> | 585772 | ··············<Contents>Een·ernstige·vorm·van·oculocutaan·albinisme·type·1·(OCA1),·gekarakteriseerd·door·volledige·afwezigheid·van·melanine·en·zich·manifesterend·als·wit·haar·en·witte·huid,·blauwe·en·volledig·doorschijnende·irissen,·nystagmus·en·verkeerd·verloop·van·de·oogzenuwen.</Contents> |
| 585685 | ············</TextSection> | 585773 | ············</TextSection> |
| 585686 | ··········</TextSectionList> | 585774 | ··········</TextSectionList> |
| 585687 | ········</SummaryInformation> | 585775 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 587786 | ······<SynonymList·count="5"> | 587874 | ······<SynonymList·count="5"> |
| 587787 | ········<Synonym·lang="nl">ANCL</Synonym> | 587875 | ········<Synonym·lang="nl">ANCL</Synonym> |
| 587788 | ········<Synonym·lang="nl">Adulte·NCL</Synonym> | 587876 | ········<Synonym·lang="nl">Adulte·NCL</Synonym> |
| | 587877 | ········<Synonym·lang="nl">Neuronale·ceroïdlipofuscinose·bij·volwassene</Synonym> |
| 587789 | ········<Synonym·lang="nl">Volwassen·NCL</Synonym> | 587878 | ········<Synonym·lang="nl">Volwassen·NCL</Synonym> |
| 587790 | ········<Synonym·lang="nl">Volwassen·neuronale·ceroïdlipofuscinose</Synonym> | |
| 587791 | ········<Synonym·lang="nl">Ziekte·van·Kufs</Synonym> | 587879 | ········<Synonym·lang="nl">Ziekte·van·Kufs</Synonym> |
| 587792 | ······</SynonymList> | 587880 | ······</SynonymList> |
| 587793 | ······<DisorderType·id="21394"> | 587881 | ······<DisorderType·id="21394"> |
| ⋮ | ⋮ |
| 589581 | ····<Disorder·id="11327"> | 589669 | ····<Disorder·id="11327"> |
| 589582 | ······<OrphaCode>79301</OrphaCode> | 589670 | ······<OrphaCode>79301</OrphaCode> |
| 589583 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79301</ExpertLink> | 589671 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79301</ExpertLink> |
| 589584 | ······<Name·lang="nl">Congenitaal·galzuursynthesedefect·type·1</Name> | 589672 | ······<Name·lang="nl">Congenitaal·defect·van·galzuursynthese·type·1</Name> |
| 589585 | ······<DisorderFlagList·count="1"> | 589673 | ······<DisorderFlagList·count="1"> |
| 589586 | ········<DisorderFlag·id="475"> | 589674 | ········<DisorderFlag·id="475"> |
| 589587 | ··········<Value>1</Value> | 589675 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 589589 | ········</DisorderFlag> | 589677 | ········</DisorderFlag> |
| 589590 | ······</DisorderFlagList> | 589678 | ······</DisorderFlagList> |
| 589591 | ······<SynonymList·count="2"> | 589679 | ······<SynonymList·count="2"> |
| 589592 | ········<Synonym·lang="nl">3-bèta-hydroxy-delta-5-C27-steroïd-oxidoreductasedeficiëntie</Synonym> | |
| 589593 | ········<Synonym·lang="nl">BASD1</Synonym> | 589680 | ········<Synonym·lang="nl">BASD1</Synonym> |
| | 589681 | ········<Synonym·lang="nl">Deficiëntie·van·3-bèta-hydroxy-delta-5-C27-steroïd-oxidoreductase</Synonym> |
| 589594 | ······</SynonymList> | 589682 | ······</SynonymList> |
| 589595 | ······<DisorderType·id="21394"> | 589683 | ······<DisorderType·id="21394"> |
| 589596 | ········<Name·lang="nl">Ziekte</Name> | 589684 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 590022 | ····<Disorder·id="11305"> | 590110 | ····<Disorder·id="11305"> |
| 590023 | ······<OrphaCode>79279</OrphaCode> | 590111 | ······<OrphaCode>79279</OrphaCode> |
| 590024 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79279</ExpertLink> | 590112 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79279</ExpertLink> |
| 590025 | ······<Name·lang="nl">Alfa-N-acetylgalactosaminidasedeficiëntie·type·1</Name> | 590113 | ······<Name·lang="nl">Deficiëntie·van·alfa-N-acetylgalactosaminidase·type·1</Name> |
| 590026 | ······<DisorderFlagList·count="1"> | 590114 | ······<DisorderFlagList·count="1"> |
| 590027 | ········<DisorderFlag·id="475"> | 590115 | ········<DisorderFlag·id="475"> |
| 590028 | ··········<Value>1</Value> | 590116 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 590105 | ····<Disorder·id="11306"> | 590193 | ····<Disorder·id="11306"> |
| 590106 | ······<OrphaCode>79280</OrphaCode> | 590194 | ······<OrphaCode>79280</OrphaCode> |
| 590107 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79280</ExpertLink> | 590195 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79280</ExpertLink> |
| 590108 | ······<Name·lang="nl">Alfa-N-acetylgalactosaminidasedeficiëntie·type·2</Name> | 590196 | ······<Name·lang="nl">Deficiëntie·van·alfa-N-acetylgalactosaminidase·type·2</Name> |
| 590109 | ······<DisorderFlagList·count="1"> | 590197 | ······<DisorderFlagList·count="1"> |
| 590110 | ········<DisorderFlag·id="475"> | 590198 | ········<DisorderFlag·id="475"> |
| 590111 | ··········<Value>1</Value> | 590199 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 590113 | ········</DisorderFlag> | 590201 | ········</DisorderFlag> |
| 590114 | ······</DisorderFlagList> | 590202 | ······</DisorderFlagList> |
| 590115 | ······<SynonymList·count="4"> | 590203 | ······<SynonymList·count="4"> |
| 590116 | ········<Synonym·lang="nl">Alfa-N-acetylgalactosaminidasedeficiëntie,·aanvang·op·volwassen·leeftijd</Synonym> | 590204 | ········<Synonym·lang="nl">Deficiëntie·van·alfa-N-acetylgalactosaminidase·met·aanvang·in·de·volwassenheid</Synonym> |
| 590117 | ········<Synonym·lang="nl">NAGA-deficiëntie·type·2</Synonym> | 590205 | ········<Synonym·lang="nl">NAGA-deficiëntie·type·2</Synonym> |
| 590118 | ········<Synonym·lang="nl">Ziekte·van·Kanzaki</Synonym> | 590206 | ········<Synonym·lang="nl">Ziekte·van·Kanzaki</Synonym> |
| 590119 | ········<Synonym·lang="nl">Ziekte·van·Schindler·type·2</Synonym> | 590207 | ········<Synonym·lang="nl">Ziekte·van·Schindler·type·2</Synonym> |
| ⋮ | ⋮ |
| 590190 | ····<Disorder·id="11307"> | 590278 | ····<Disorder·id="11307"> |
| 590191 | ······<OrphaCode>79281</OrphaCode> | 590279 | ······<OrphaCode>79281</OrphaCode> |
| 590192 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79281</ExpertLink> | 590280 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79281</ExpertLink> |
| 590193 | ······<Name·lang="nl">Alfa-N-acetylgalactosaminidasedeficiëntie·type·3</Name> | 590281 | ······<Name·lang="nl">Deficiëntie·van·alfa-N-acetylgalactosaminidase·type·3</Name> |
| 590194 | ······<DisorderFlagList·count="1"> | 590282 | ······<DisorderFlagList·count="1"> |
| 590195 | ········<DisorderFlag·id="475"> | 590283 | ········<DisorderFlag·id="475"> |
| 590196 | ··········<Value>1</Value> | 590284 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 592351 | ····<Disorder·id="11342"> | 592439 | ····<Disorder·id="11342"> |
| 592352 | ······<OrphaCode>79316</OrphaCode> | 592440 | ······<OrphaCode>79316</OrphaCode> |
| 592353 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79316</ExpertLink> | 592441 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79316</ExpertLink> |
| 592354 | ······<Name·lang="nl">OBSOLEET:·Fosfo-enolpyruvaatcarboxykinase·1-deficiëntie</Name> | 592442 | ······<Name·lang="nl">OBSOLEET:·Deficiëntie·van·fosfo-enolpyruvaat-carboxykinase·1</Name> |
| 592355 | ······<DisorderFlagList·count="2"> | 592443 | ······<DisorderFlagList·count="2"> |
| 592356 | ········<DisorderFlag·id="495"> | 592444 | ········<DisorderFlag·id="495"> |
| 592357 | ··········<Value>8192</Value> | 592445 | ··········<Value>8192</Value> |
| ⋮ | ⋮ |
| 592377 | ········<DisorderDisorderAssociation> | 592465 | ········<DisorderDisorderAssociation> |
| 592378 | ··········<TargetDisorder·id="3374"> | 592466 | ··········<TargetDisorder·id="3374"> |
| 592379 | ············<OrphaCode>2880</OrphaCode> | 592467 | ············<OrphaCode>2880</OrphaCode> |
| 592380 | ············<Name·lang="nl">Fosfo-enolpyruvaat-carboxykinasedeficiëntie</Name> | 592468 | ············<Name·lang="nl">Deficiëntie·van·fosfo-enolpyruvaat-carboxykinase</Name> |
| 592381 | ··········</TargetDisorder> | 592469 | ··········</TargetDisorder> |
| 592382 | ··········<RootDisorder·id="11342"·cycle="true"/> | 592470 | ··········<RootDisorder·id="11342"·cycle="true"/> |
| 592383 | ··········<DisorderDisorderAssociationType·id="27341"> | 592471 | ··········<DisorderDisorderAssociationType·id="27341"> |
| ⋮ | ⋮ |
| 592398 | ····<Disorder·id="11343"> | 592486 | ····<Disorder·id="11343"> |
| 592399 | ······<OrphaCode>79317</OrphaCode> | 592487 | ······<OrphaCode>79317</OrphaCode> |
| 592400 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79317</ExpertLink> | 592488 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79317</ExpertLink> |
| 592401 | ······<Name·lang="nl">OBSOLEET:·Fosfo-enolpyruvaatcarboxykinase·2-deficiëntie</Name> | 592489 | ······<Name·lang="nl">OBSOLEET:·Deficiëntie·van·fosfo-enolpyruvaat-carboxykinase·2</Name> |
| 592402 | ······<DisorderFlagList·count="2"> | 592490 | ······<DisorderFlagList·count="2"> |
| 592403 | ········<DisorderFlag·id="495"> | 592491 | ········<DisorderFlag·id="495"> |
| 592404 | ··········<Value>8192</Value> | 592492 | ··········<Value>8192</Value> |
| ⋮ | ⋮ |
| 592424 | ········<DisorderDisorderAssociation> | 592512 | ········<DisorderDisorderAssociation> |
| 592425 | ··········<TargetDisorder·id="3374"> | 592513 | ··········<TargetDisorder·id="3374"> |
| 592426 | ············<OrphaCode>2880</OrphaCode> | 592514 | ············<OrphaCode>2880</OrphaCode> |
| 592427 | ············<Name·lang="nl">Fosfo-enolpyruvaat-carboxykinasedeficiëntie</Name> | 592515 | ············<Name·lang="nl">Deficiëntie·van·fosfo-enolpyruvaat-carboxykinase</Name> |
| 592428 | ··········</TargetDisorder> | 592516 | ··········</TargetDisorder> |
| 592429 | ··········<RootDisorder·id="11343"·cycle="true"/> | 592517 | ··········<RootDisorder·id="11343"·cycle="true"/> |
| 592430 | ··········<DisorderDisorderAssociationType·id="27341"> | 592518 | ··········<DisorderDisorderAssociationType·id="27341"> |
| ⋮ | ⋮ |
| 593101 | ····<Disorder·id="11328"> | 593189 | ····<Disorder·id="11328"> |
| 593102 | ······<OrphaCode>79302</OrphaCode> | 593190 | ······<OrphaCode>79302</OrphaCode> |
| 593103 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79302</ExpertLink> | 593191 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79302</ExpertLink> |
| 593104 | ······<Name·lang="nl">Congenitaal·galzuursynthesedefect·type·3</Name> | 593192 | ······<Name·lang="nl">Congenitaal·defect·van·galzuursynthese·type·3</Name> |
| 593105 | ······<DisorderFlagList·count="1"> | 593193 | ······<DisorderFlagList·count="1"> |
| 593106 | ········<DisorderFlag·id="475"> | 593194 | ········<DisorderFlag·id="475"> |
| 593107 | ··········<Value>1</Value> | 593195 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 593110 | ······</DisorderFlagList> | 593198 | ······</DisorderFlagList> |
| 593111 | ······<SynonymList·count="2"> | 593199 | ······<SynonymList·count="2"> |
| 593112 | ········<Synonym·lang="nl">BASD3</Synonym> | 593200 | ········<Synonym·lang="nl">BASD3</Synonym> |
| 593113 | ········<Synonym·lang="nl">Oxysterol·7-alfa-hydroxylasedeficiëntie</Synonym> | 593201 | ········<Synonym·lang="nl">Deficiëntie·van·oxysterol·7-alfa-hydroxylase</Synonym> |
| 593114 | ······</SynonymList> | 593202 | ······</SynonymList> |
| 593115 | ······<DisorderType·id="21394"> | 593203 | ······<DisorderType·id="21394"> |
| 593116 | ········<Name·lang="nl">Ziekte</Name> | 593204 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 593174 | ····<Disorder·id="11329"> | 593262 | ····<Disorder·id="11329"> |
| 593175 | ······<OrphaCode>79303</OrphaCode> | 593263 | ······<OrphaCode>79303</OrphaCode> |
| 593176 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79303</ExpertLink> | 593264 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79303</ExpertLink> |
| 593177 | ······<Name·lang="nl">Congenitaal·galzuursynthesedefect·type·2</Name> | 593265 | ······<Name·lang="nl">Congenitaal·defect·van·galzuursynthese·type·2</Name> |
| 593178 | ······<DisorderFlagList·count="1"> | 593266 | ······<DisorderFlagList·count="1"> |
| 593179 | ········<DisorderFlag·id="475"> | 593267 | ········<DisorderFlag·id="475"> |
| 593180 | ··········<Value>1</Value> | 593268 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 593183 | ······</DisorderFlagList> | 593271 | ······</DisorderFlagList> |
| 593184 | ······<SynonymList·count="2"> | 593272 | ······<SynonymList·count="2"> |
| 593185 | ········<Synonym·lang="nl">BASD2</Synonym> | 593273 | ········<Synonym·lang="nl">BASD2</Synonym> |
| 593186 | ········<Synonym·lang="nl">Cholestase,·met·delta(4)-3-oxosteroïd·5-bèta-reductasedeficiëntie</Synonym> | 593274 | ········<Synonym·lang="nl">Cholestase·met·deficiëntie·van·delta(4)-3-oxosteroïd·5-bèta-reductase</Synonym> |
| 593187 | ······</SynonymList> | 593275 | ······</SynonymList> |
| 593188 | ······<DisorderType·id="21394"> | 593276 | ······<DisorderType·id="21394"> |
| 593189 | ········<Name·lang="nl">Ziekte</Name> | 593277 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 593415 | ··········<Label></Label> | 593503 | ··········<Label></Label> |
| 593416 | ········</DisorderFlag> | 593504 | ········</DisorderFlag> |
| 593417 | ······</DisorderFlagList> | 593505 | ······</DisorderFlagList> |
| 593418 | ······<SynonymList·count="2"> | 593506 | ······<SynonymList·count="3"> |
| 593419 | ········<Synonym·lang="nl">Alopecia</Synonym> | 593507 | ········<Synonym·lang="nl">Alopecia</Synonym> |
| 593420 | ········<Synonym·lang="nl">Haaruitval</Synonym> | 593508 | ········<Synonym·lang="nl">Haaruitval</Synonym> |
| | 593509 | ········<Synonym·lang="nl">Kaalheid</Synonym> |
| 593421 | ······</SynonymList> | 593510 | ······</SynonymList> |
| 593422 | ······<DisorderType·id="36561"> | 593511 | ······<DisorderType·id="36561"> |
| 593423 | ········<Name·lang="nl">Category</Name> | 593512 | ········<Name·lang="nl">Category</Name> |
| ⋮ | ⋮ |
| 593995 | ····<Disorder·id="11377"> | 594084 | ····<Disorder·id="11377"> |
| 593996 | ······<OrphaCode>79351</OrphaCode> | 594085 | ······<OrphaCode>79351</OrphaCode> |
| 593997 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79351</ExpertLink> | 594086 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79351</ExpertLink> |
| 593998 | ······<Name·lang="nl">3-Fosfoglyceraatdehydrogenasedeficiëntie,·infantiele/juveniele·vorm</Name> | 594087 | ······<Name·lang="nl">Deficiëntie·van·3-fosfoglyceraatdehydrogenase,·infantiele/juveniele·vorm</Name> |
| 593999 | ······<DisorderFlagList·count="1"> | 594088 | ······<DisorderFlagList·count="1"> |
| 594000 | ········<DisorderFlag·id="475"> | 594089 | ········<DisorderFlag·id="475"> |
| 594001 | ··········<Value>1</Value> | 594090 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 594053 | ··········<TargetDisorder·id="11377"·cycle="true"/> | 594142 | ··········<TargetDisorder·id="11377"·cycle="true"/> |
| 594054 | ··········<RootDisorder·id="23137"> | 594143 | ··········<RootDisorder·id="23137"> |
| 594055 | ············<OrphaCode>422519</OrphaCode> | 594144 | ············<OrphaCode>422519</OrphaCode> |
| 594056 | ············<Name·lang="nl">OBSOLEET:·3-Fosfoglyceraatdehydrogenasedeficiëntie</Name> | 594145 | ············<Name·lang="nl">OBSOLEET:·Deficiëntie·van·3-fosfoglyceraatdehydrogenase</Name> |
| 594057 | ··········</RootDisorder> | 594146 | ··········</RootDisorder> |
| 594058 | ··········<DisorderDisorderAssociationType·id="27341"> | 594147 | ··········<DisorderDisorderAssociationType·id="27341"> |
| 594059 | ············<Name·lang="nl">Referred·to</Name> | 594148 | ············<Name·lang="nl">Referred·to</Name> |
| ⋮ | ⋮ |
| 594066 | ····<Disorder·id="11376"> | 594155 | ····<Disorder·id="11376"> |
| 594067 | ······<OrphaCode>79350</OrphaCode> | 594156 | ······<OrphaCode>79350</OrphaCode> |
| 594068 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79350</ExpertLink> | 594157 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=79350</ExpertLink> |
| 594069 | ······<Name·lang="nl">3-fosfoserinefosfatasedeficiëntie,·infantiele/juveniele·vorm</Name> | 594158 | ······<Name·lang="nl">Deficiëntie·van·3-fosfoserinefosfatase,·infantiele/juveniele·vorm</Name> |
| 594070 | ······<DisorderFlagList·count="1"> | 594159 | ······<DisorderFlagList·count="1"> |
| 594071 | ········<DisorderFlag·id="475"> | 594160 | ········<DisorderFlag·id="475"> |
| 594072 | ··········<Value>1</Value> | 594161 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 594665 | ····<Disorder·id="11650"> | 594754 | ····<Disorder·id="11650"> |
| 594666 | ······<OrphaCode>85192</OrphaCode> | 594755 | ······<OrphaCode>85192</OrphaCode> |
| 594667 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=85192</ExpertLink> | 594756 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=85192</ExpertLink> |
| 594668 | ······<Name·lang="nl">Calvariale·donutlaesies·-·botfragiliteit</Name> | 594757 | ······<Name·lang="nl">Donutlaesies·van·calvaria·-·botfragiliteit-syndroom</Name> |
| 594669 | ······<DisorderFlagList·count="1"> | 594758 | ······<DisorderFlagList·count="1"> |
| 594670 | ········<DisorderFlag·id="475"> | 594759 | ········<DisorderFlag·id="475"> |
| 594671 | ··········<Value>1</Value> | 594760 | ··········<Value>1</Value> |
| 594672 | ··········<Label></Label> | 594761 | ··········<Label></Label> |
| 594673 | ········</DisorderFlag> | 594762 | ········</DisorderFlag> |
| 594674 | ······</DisorderFlagList> | 594763 | ······</DisorderFlagList> |
| 594675 | ······<SynonymList·count="1"> | 594764 | ······<SynonymList·count="2"> |
| 594676 | ········<Synonym·lang="nl">Familiale·donutlaesie·van·de·schedel</Synonym> | 594765 | ········<Synonym·lang="nl">Donutlaesies·van·schedeldak·-·botfragiliteit-syndroom</Synonym> |
| | 594766 | ········<Synonym·lang="nl">Familiale·donutlaesies·van·schedel</Synonym> |
| 594677 | ······</SynonymList> | 594767 | ······</SynonymList> |
| 594678 | ······<DisorderType·id="21401"> | 594768 | ······<DisorderType·id="21401"> |
| 594679 | ········<Name·lang="nl">Malformatiesyndroom</Name> | 594769 | ········<Name·lang="nl">Malformatiesyndroom</Name> |
| ⋮ | ⋮ |
| 595277 | ····<Disorder·id="11661"> | 595367 | ····<Disorder·id="11661"> |
| 595278 | ······<OrphaCode>85203</OrphaCode> | 595368 | ······<OrphaCode>85203</OrphaCode> |
| 595279 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=85203</ExpertLink> | 595369 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=85203</ExpertLink> |
| 595280 | ······<Name·lang="nl">Acro-pectoraal·syndroom</Name> | 595370 | ······<Name·lang="nl">Acropectoraal·syndroom</Name> |
| 595281 | ······<DisorderFlagList·count="1"> | 595371 | ······<DisorderFlagList·count="1"> |
| 595282 | ········<DisorderFlag·id="475"> | 595372 | ········<DisorderFlag·id="475"> |
| 595283 | ··········<Value>1</Value> | 595373 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 595286 | ······</DisorderFlagList> | 595376 | ······</DisorderFlagList> |
| 595287 | ······<SynonymList·count="2"> | 595377 | ······<SynonymList·count="2"> |
| 595288 | ········<Synonym·lang="nl">ACRP-syndroom</Synonym> | 595378 | ········<Synonym·lang="nl">ACRP-syndroom</Synonym> |
| 595289 | ········<Synonym·lang="nl">Syndactylie·-·preaxiale·polydactylie·-·sternale·misvorming-syndroom</Synonym> | 595379 | ········<Synonym·lang="nl">Syndactylie·-·preaxiale·polydactylie·-·misvorming·van·sternum-syndroom</Synonym> |
| 595290 | ······</SynonymList> | 595380 | ······</SynonymList> |
| 595291 | ······<DisorderType·id="21401"> | 595381 | ······<DisorderType·id="21401"> |
| 595292 | ········<Name·lang="nl">Malformatiesyndroom</Name> | 595382 | ········<Name·lang="nl">Malformatiesyndroom</Name> |
| ⋮ | ⋮ |
| 597270 | ····<Disorder·id="11691"> | 597360 | ····<Disorder·id="11691"> |
| 597271 | ······<OrphaCode>85321</OrphaCode> | 597361 | ······<OrphaCode>85321</OrphaCode> |
| 597272 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=85321</ExpertLink> | 597362 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=85321</ExpertLink> |
| 597273 | ······<Name·lang="nl">Doofheid·-·intellectuele·achterstand,·Martin-Probst-type</Name> | 597363 | ······<Name·lang="nl">Doofheid·-·intellectuele·achterstand-syndroom,·Martin-Probst-type</Name> |
| 597274 | ······<DisorderFlagList·count="1"> | 597364 | ······<DisorderFlagList·count="1"> |
| 597275 | ········<DisorderFlag·id="475"> | 597365 | ········<DisorderFlag·id="475"> |
| 597276 | ··········<Value>1</Value> | 597366 | ··········<Value>1</Value> |
| 597277 | ··········<Label></Label> | 597367 | ··········<Label></Label> |
| 597278 | ········</DisorderFlag> | 597368 | ········</DisorderFlag> |
| 597279 | ······</DisorderFlagList> | 597369 | ······</DisorderFlagList> |
| 597280 | ······<SynonymList·count="2"> | 597370 | ······<SynonymList·count="4"> |
| 597281 | ········<Synonym·lang="nl">Martin-Probstsyndroom</Synonym> | 597371 | ········<Synonym·lang="nl">Gehoorverlies·-·intellectuele·achterstand-syndroom,·Martin-Probst-type</Synonym> |
| 597282 | ········<Synonym·lang="nl">X-gebonden·doofheid·-·intellectuele·achterstandsyndroom</Synonym> | 597372 | ········<Synonym·lang="nl">Syndroom·van·Martin-Probst</Synonym> |
| | 597373 | ········<Synonym·lang="nl">X-gebonden·doofheid·-·intellectuele·achterstand-syndroom</Synonym> |
| | 597374 | ········<Synonym·lang="nl">X-gebonden·gehoorverlies·-·intellectuele·achterstand-syndroom</Synonym> |
| 597283 | ······</SynonymList> | 597375 | ······</SynonymList> |
| 597284 | ······<DisorderType·id="21401"> | 597376 | ······<DisorderType·id="21401"> |
| 597285 | ········<Name·lang="nl">Malformatiesyndroom</Name> | 597377 | ········<Name·lang="nl">Malformatiesyndroom</Name> |
| ⋮ | ⋮ |
| 597326 | ······</ExternalReferenceList> | 597418 | ······</ExternalReferenceList> |
| 597327 | ······<DisorderDisorderAssociationList·count="0"> | 597419 | ······<DisorderDisorderAssociationList·count="0"> |
| 597328 | ······</DisorderDisorderAssociationList> | 597420 | ······</DisorderDisorderAssociationList> |
| 597329 | ······<SummaryInformationList·count="0"> | 597421 | ······<SummaryInformationList·count="1"> |
| | 597422 | ········<SummaryInformation·id="129149"·lang="nl"> |
| | 597423 | ··········<TextSectionList·count="1"> |
| | 597424 | ············<TextSection·id="168002"·lang="nl"> |
| | 597425 | ··············<TextSectionType·id="16907"> |
| | 597426 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 597427 | ··············</TextSectionType> |
| | 597428 | ··············<Contents>Een·zeldzame·X-gebonden·syndromale·intellectuele·achterstand,·gekarakteriseerd·door·congenitaal·sensorineuraal·gehoorverlies,·variabele·gradaties·van·intellectuele·achterstand,·kleine·gestalte,·en·dysmorfe·gelaatskenmerken·(zoals·telecanthus,·epicanthusplooien,·brede·neuswortel,·hypoplasie·van·jukbeenderen,·laagstaande·oren,·dentale·anomalieën,·en·micrognathie).·Bijkomende·manifestaties·die·werden·gerapporteerd,·zijn·onder·meer·microcefalie,·renale·en·urogenitale·afwijkingen,·ver·uit·elkaar·staande·en·hypoplastische·tepels,·en·in·de·volwassenheid·optredende·progressieve·pancytopenie.</Contents> |
| | 597429 | ············</TextSection> |
| | 597430 | ··········</TextSectionList> |
| | 597431 | ········</SummaryInformation> |
| 597330 | ······</SummaryInformationList> | 597432 | ······</SummaryInformationList> |
| 597331 | ····</Disorder> | 597433 | ····</Disorder> |
| 597332 | ····<Disorder·id="11690"> | 597434 | ····<Disorder·id="11690"> |
| ⋮ | ⋮ |
| 597634 | ······</ExternalReferenceList> | 597736 | ······</ExternalReferenceList> |
| 597635 | ······<DisorderDisorderAssociationList·count="0"> | 597737 | ······<DisorderDisorderAssociationList·count="0"> |
| 597636 | ······</DisorderDisorderAssociationList> | 597738 | ······</DisorderDisorderAssociationList> |
| 597637 | ······<SummaryInformationList·count="0"> | 597739 | ······<SummaryInformationList·count="1"> |
| | 597740 | ········<SummaryInformation·id="129153"·lang="nl"> |
| | 597741 | ··········<TextSectionList·count="1"> |
| | 597742 | ············<TextSection·id="168006"·lang="nl"> |
| | 597743 | ··············<TextSectionType·id="16907"> |
| | 597744 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 597745 | ··············</TextSectionType> |
| | 597746 | ··············<Contents>Een·zeldzame·X-gebonden·syndromale·intellectuele·achterstand,·gekarakteriseerd·door·algehele·ontwikkelingsachterstand·en·ernstige·intellectuele·achterstand,·insulten,·en·recidiverende·infecties·van·onderste·luchtwegen,·en·resulterend·in·voortijdige·sterfte·bij·getroffen·mannen.·Bijkomende·manifestaties·die·werden·gerapporteerd,·zijn·onder·meer·milde·dysmorfe·gelaatskenmerken·(zoals·epicanthusplooien,·hoge·neusbrug,·of·kleine·mond),·gangstoornissen,·hoge·peesreflexen,·vertraagde·botmaturatie,·en·taps·toelopende·vingers.·Er·werd·geen·duidelijke·heterozygote·manifestatie·gerapporteerd·bij·vrouwen.</Contents> |
| | 597747 | ············</TextSection> |
| | 597748 | ··········</TextSectionList> |
| | 597749 | ········</SummaryInformation> |
| 597638 | ······</SummaryInformationList> | 597750 | ······</SummaryInformationList> |
| 597639 | ····</Disorder> | 597751 | ····</Disorder> |
| 597640 | ····<Disorder·id="11698"> | 597752 | ····<Disorder·id="11698"> |
| ⋮ | ⋮ |
| 599935 | ······</DisorderFlagList> | 600047 | ······</DisorderFlagList> |
| 599936 | ······<SynonymList·count="3"> | 600048 | ······<SynonymList·count="3"> |
| 599937 | ········<Synonym·lang="nl">Atrophia·areata</Synonym> | 600049 | ········<Synonym·lang="nl">Atrophia·areata</Synonym> |
| | 600050 | ········<Synonym·lang="nl">Chorioretinale·atrofie·van·Sveinsson</Synonym> |
| 599938 | ········<Synonym·lang="nl">SCRA</Synonym> | 600051 | ········<Synonym·lang="nl">SCRA</Synonym> |
| 599939 | ········<Synonym·lang="nl">Sveinsson·chorioretinale·atrofie</Synonym> | |
| 599940 | ······</SynonymList> | 600052 | ······</SynonymList> |
| 599941 | ······<DisorderType·id="21394"> | 600053 | ······<DisorderType·id="21394"> |
| 599942 | ········<Name·lang="nl">Ziekte</Name> | 600054 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 599989 | ····<Disorder·id="11734"> | 600101 | ····<Disorder·id="11734"> |
| 599990 | ······<OrphaCode>86814</OrphaCode> | 600102 | ······<OrphaCode>86814</OrphaCode> |
| 599991 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=86814</ExpertLink> | 600103 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=86814</ExpertLink> |
| 599992 | ······<Name·lang="nl">Goedaardige·familiale·myoclonische·epilepsie,·volwassen·vorm</Name> | 600104 | ······<Name·lang="nl">Goedaardige·adulte·familiale·myoclonische·epilepsie</Name> |
| 599993 | ······<DisorderFlagList·count="1"> | 600105 | ······<DisorderFlagList·count="1"> |
| 599994 | ········<DisorderFlag·id="475"> | 600106 | ········<DisorderFlag·id="475"> |
| 599995 | ··········<Value>1</Value> | 600107 | ··········<Value>1</Value> |
| 599996 | ··········<Label></Label> | 600108 | ··········<Label></Label> |
| 599997 | ········</DisorderFlag> | 600109 | ········</DisorderFlag> |
| 599998 | ······</DisorderFlagList> | 600110 | ······</DisorderFlagList> |
| 599999 | ······<SynonymList·count="7"> | 600111 | ······<SynonymList·count="8"> |
| 600000 | ········<Synonym·lang="nl">ADCME</Synonym> | 600112 | ········<Synonym·lang="nl">ADCME</Synonym> |
| 600001 | ········<Synonym·lang="nl">Autosomaal·dominante·corticale·myoclonus·en·epilepsie</Synonym> | 600113 | ········<Synonym·lang="nl">Autosomaal·dominante·corticale·myoclonus·en·epilepsie</Synonym> |
| 600002 | ········<Synonym·lang="nl">BAFME</Synonym> | 600114 | ········<Synonym·lang="nl">BAFME</Synonym> |
| ⋮ | ⋮ |
| 600004 | ········<Synonym·lang="nl">FCMTE</Synonym> | 600116 | ········<Synonym·lang="nl">FCMTE</Synonym> |
| 600005 | ········<Synonym·lang="nl">Familiale·corticale·myoclonische·tremor·en·epilepsie</Synonym> | 600117 | ········<Synonym·lang="nl">Familiale·corticale·myoclonische·tremor·en·epilepsie</Synonym> |
| 600006 | ········<Synonym·lang="nl">Familiale·volwassen·myoclonische·epilepsie</Synonym> | 600118 | ········<Synonym·lang="nl">Familiale·volwassen·myoclonische·epilepsie</Synonym> |
| | 600119 | ········<Synonym·lang="nl">Goedaardige·familiale·myoclonusepilepsie·op·volwassen·leeftijd</Synonym> |
| 600007 | ······</SynonymList> | 600120 | ······</SynonymList> |
| 600008 | ······<DisorderType·id="21394"> | 600121 | ······<DisorderType·id="21394"> |
| 600009 | ········<Name·lang="nl">Ziekte</Name> | 600122 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 601795 | ····<Disorder·id="11757"> | 601908 | ····<Disorder·id="11757"> |
| 601796 | ······<OrphaCode>86852</OrphaCode> | 601909 | ······<OrphaCode>86852</OrphaCode> |
| 601797 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=86852</ExpertLink> | 601910 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=86852</ExpertLink> |
| 601798 | ······<Name·lang="nl">B-cel·prolymfocytische·leukemie</Name> | 601911 | ······<Name·lang="nl">B-cel-prolymfocytenleukemie</Name> |
| 601799 | ······<DisorderFlagList·count="1"> | 601912 | ······<DisorderFlagList·count="1"> |
| 601800 | ········<DisorderFlag·id="475"> | 601913 | ········<DisorderFlag·id="475"> |
| 601801 | ··········<Value>1</Value> | 601914 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 602196 | ······</ExternalReferenceList> | 602309 | ······</ExternalReferenceList> |
| 602197 | ······<DisorderDisorderAssociationList·count="0"> | 602310 | ······<DisorderDisorderAssociationList·count="0"> |
| 602198 | ······</DisorderDisorderAssociationList> | 602311 | ······</DisorderDisorderAssociationList> |
| 602199 | ······<SummaryInformationList·count="1"> | 602312 | ······<SummaryInformationList·count="0"> |
| 602200 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 602201 | ··········<TextSectionList·count="0"> | |
| 602202 | ··········</TextSectionList> | |
| 602203 | ··········<TextAuto> | |
| 602204 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 602205 | ··········</TextAuto> | |
| 602206 | ········</SummaryInformation> | |
| 602207 | ······</SummaryInformationList> | 602313 | ······</SummaryInformationList> |
| 602208 | ····</Disorder> | 602314 | ····</Disorder> |
| 602209 | ····<Disorder·id="11752"> | 602315 | ····<Disorder·id="11752"> |
| ⋮ | ⋮ |
| 602294 | ····<Disorder·id="11766"> | 602400 | ····<Disorder·id="11766"> |
| 602295 | ······<OrphaCode>86872</OrphaCode> | 602401 | ······<OrphaCode>86872</OrphaCode> |
| 602296 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=86872</ExpertLink> | 602402 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=86872</ExpertLink> |
| 602297 | ······<Name·lang="nl">T-cel-leukemie·met·grote·granulaire·lymfocyten</Name> | 602403 | ······<Name·lang="nl">Grootcellige·granulaire·lymfocytaire·T-celleukemie</Name> |
| 602298 | ······<DisorderFlagList·count="1"> | 602404 | ······<DisorderFlagList·count="1"> |
| 602299 | ········<DisorderFlag·id="475"> | 602405 | ········<DisorderFlag·id="475"> |
| 602300 | ··········<Value>1</Value> | 602406 | ··········<Value>1</Value> |
| 602301 | ··········<Label></Label> | 602407 | ··········<Label></Label> |
| 602302 | ········</DisorderFlag> | 602408 | ········</DisorderFlag> |
| 602303 | ······</DisorderFlagList> | 602409 | ······</DisorderFlagList> |
| 602304 | ······<SynonymList·count="4"> | 602410 | ······<SynonymList·count="3"> |
| 602305 | ········<Synonym·lang="nl">Proliferatie·van·grote·granulaire·lymfocyten</Synonym> | 602411 | ········<Synonym·lang="nl">Proliferatie·van·grote·granulaire·lymfocyten</Synonym> |
| 602306 | ········<Synonym·lang="nl">T-LGL</Synonym> | 602412 | ········<Synonym·lang="nl">T-LGL</Synonym> |
| 602307 | ········<Synonym·lang="nl">T-cel·LGL·leukemie</Synonym> | 602413 | ········<Synonym·lang="nl">T-cel·LGL·leukemie</Synonym> |
| 602308 | ········<Synonym·lang="nl">T-cel·chronische·lymfocytaire·leukemie</Synonym> | |
| 602309 | ······</SynonymList> | 602414 | ······</SynonymList> |
| 602310 | ······<DisorderType·id="21394"> | 602415 | ······<DisorderType·id="21394"> |
| 602311 | ········<Name·lang="nl">Ziekte</Name> | 602416 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 602545 | ······</ExternalReferenceList> | 602650 | ······</ExternalReferenceList> |
| 602546 | ······<DisorderDisorderAssociationList·count="0"> | 602651 | ······<DisorderDisorderAssociationList·count="0"> |
| 602547 | ······</DisorderDisorderAssociationList> | 602652 | ······</DisorderDisorderAssociationList> |
| 602548 | ······<SummaryInformationList·count="0"> | 602653 | ······<SummaryInformationList·count="1"> |
| | 602654 | ········<SummaryInformation·id="128991"·lang="nl"> |
| | 602655 | ··········<TextSectionList·count="1"> |
| | 602656 | ············<TextSection·id="167915"·lang="nl"> |
| | 602657 | ··············<TextSectionType·id="16907"> |
| | 602658 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 602659 | ··············</TextSectionType> |
| | 602660 | ··············<Contents>Een·zeldzaam·hematologisch·neoplasma,·gekarakteriseerd·door·een·oorsprong·in·voorlopers·van·plasmacytoïde·dendritische·cellen,·met·frequente·betrokkenheid·van·huid,·beenmerg·en·lymfeklieren,·alsook·leukemische·disseminatie.·De·meest·gangbare·klinische·presentatie·is·met·asymptomatische·solitaire·of·meervoudige·huidlaesies·(geïsoleerde·blauw-rode·noduli,·geïsoleerde·kneuzing-achtige·papels,·of·gedissemineerde·blauw-rode·noduli/maculae/papels),·hoewel·sommige·patiënten·zich·kunnen·presenteren·met·leukemie.·Huidbiopsie·toont·een·diffuus,·monomorf·infiltraat·van·middelgrote·blastcellen·die·lijken·op·lymfoblasten·of·myeloblasten,·met·massale·betrokkenheid·van·de·dermis.·Het·klinische·verloop·is·agressief,·en·leeftijd·heeft·een·nadelige·invloed·op·de·prognose.</Contents> |
| | 602661 | ············</TextSection> |
| | 602662 | ··········</TextSectionList> |
| | 602663 | ········</SummaryInformation> |
| 602549 | ······</SummaryInformationList> | 602664 | ······</SummaryInformationList> |
| 602550 | ····</Disorder> | 602665 | ····</Disorder> |
| 602551 | ····<Disorder·id="11765"> | 602666 | ····<Disorder·id="11765"> |
| 602552 | ······<OrphaCode>86871</OrphaCode> | 602667 | ······<OrphaCode>86871</OrphaCode> |
| 602553 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=86871</ExpertLink> | 602668 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=86871</ExpertLink> |
| 602554 | ······<Name·lang="nl">T-cel·prolymfocyten·leukemie</Name> | 602669 | ······<Name·lang="nl">T-cel-prolymfocytenleukemie</Name> |
| 602555 | ······<DisorderFlagList·count="1"> | 602670 | ······<DisorderFlagList·count="1"> |
| 602556 | ········<DisorderFlag·id="475"> | 602671 | ········<DisorderFlag·id="475"> |
| 602557 | ··········<Value>1</Value> | 602672 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 602645 | ····<Disorder·id="11762"> | 602760 | ····<Disorder·id="11762"> |
| 602646 | ······<OrphaCode>86867</OrphaCode> | 602761 | ······<OrphaCode>86867</OrphaCode> |
| 602647 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=86867</ExpertLink> | 602762 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=86867</ExpertLink> |
| 602648 | ······<Name·lang="nl">Nodaal·marginaal·zone·B-cellymfoom</Name> | 602763 | ······<Name·lang="nl">Nodaal·marginale·zone·B-cellymfoom</Name> |
| 602649 | ······<DisorderFlagList·count="1"> | 602764 | ······<DisorderFlagList·count="1"> |
| 602650 | ········<DisorderFlag·id="475"> | 602765 | ········<DisorderFlag·id="475"> |
| 602651 | ··········<Value>1</Value> | 602766 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 603256 | ····<Disorder·id="11770"> | 603371 | ····<Disorder·id="11770"> |
| 603257 | ······<OrphaCode>86880</OrphaCode> | 603372 | ······<OrphaCode>86880</OrphaCode> |
| 603258 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=86880</ExpertLink> | 603373 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=86880</ExpertLink> |
| 603259 | ······<Name·lang="nl">Enteropathiegeassocieerd·T-cellymfoom</Name> | 603374 | ······<Name·lang="nl">Enteropathie-geassocieerd·T-cellymfoom</Name> |
| 603260 | ······<DisorderFlagList·count="1"> | 603375 | ······<DisorderFlagList·count="1"> |
| 603261 | ········<DisorderFlag·id="475"> | 603376 | ········<DisorderFlag·id="475"> |
| 603262 | ··········<Value>1</Value> | 603377 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 604323 | ··········<Label></Label> | 604438 | ··········<Label></Label> |
| 604324 | ········</DisorderFlag> | 604439 | ········</DisorderFlag> |
| 604325 | ······</DisorderFlagList> | 604440 | ······</DisorderFlagList> |
| 604326 | ······<SynonymList·count="5"> | 604441 | ······<SynonymList·count="4"> |
| | 604442 | ········<Synonym·lang="nl">Keratoderma·palmoplantaris·punctata·type·1</Synonym> |
| 604327 | ········<Synonym·lang="nl">Keratodermia·palmoplantaris·papulosa,·Buschke-Fischer-Brauer-type</Synonym> | 604443 | ········<Synonym·lang="nl">Keratodermia·palmoplantaris·papulosa,·Buschke-Fischer-Brauer-type</Synonym> |
| 604328 | ········<Synonym·lang="nl">PPKP1</Synonym> | 604444 | ········<Synonym·lang="nl">PPKP1</Synonym> |
| 604329 | ········<Synonym·lang="nl">Puntvormige·hyperkeratose·van·handpalm·of·voetzool·type·1</Synonym> | |
| 604330 | ········<Synonym·lang="nl">Puntvormige·keratodermie·van·handpalm·of·voetzool·type·1</Synonym> | |
| 604331 | ········<Synonym·lang="nl">Syndroom·van·Buschke-Fischer-Brauer</Synonym> | 604445 | ········<Synonym·lang="nl">Syndroom·van·Buschke-Fischer-Brauer</Synonym> |
| 604332 | ······</SynonymList> | 604446 | ······</SynonymList> |
| 604333 | ······<DisorderType·id="21394"> | 604447 | ······<DisorderType·id="21394"> |
| ⋮ | ⋮ |
| 606145 | ··············<TextSectionType·id="16907"> | 606259 | ··············<TextSectionType·id="16907"> |
| 606146 | ················<Name·lang="nl">Definitie·ziekte</Name> | 606260 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 606147 | ··············</TextSectionType> | 606261 | ··············</TextSectionType> |
| 606148 | ··············<Contents>Een·syndroom·gekarakteriseerd·door·megalencefalie,·polymicrogyrie,·en·hydrocefalie·met·variabele·polydactylie.·Het·werd·beschreven·bij·zes·niet-verwante·patiënten.·Intellectuele·beperking·of·trage·ontwikkeling·is·ook·aanwezig.·Het·overervingspatroon·van·dit·syndroom·is·niet·gekend·aangezien·alle·gevallen·sporadisch·waren.</Contents> | 606262 | ··············<Contents>Een·zeldzaam·syndroom·met·een·malformatie·van·centraal·zenuwstelsel·als·belangrijk·kenmerk,·gekarakteriseerd·door·macrocefalie,·megalencefalie,·bilaterale·perisylvische·polymicrogyrie,·variabele·gradaties·van·ventriculomegalie/hydrocefalie,·ontwikkelingsachterstand·en·intellectuele·achterstand,·oromotorische·disfunctie,·hypotonie,·insulten,·en·dysmorfe·gelaatskenmerken·(zoals·boller·voorhoofd,·laagstaande·oren,·platte·neusbrug,·en·hoog·gewelfd·verhemelte).·Postaxiale·polydactylie·van·een·of·meer·ledematen·komt·ook·vaak·voor.</Contents> |
| 606149 | ············</TextSection> | 606263 | ············</TextSection> |
| 606150 | ··········</TextSectionList> | 606264 | ··········</TextSectionList> |
| 606151 | ········</SummaryInformation> | 606265 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 608185 | ··············<TextSectionType·id="16907"> | 608299 | ··············<TextSectionType·id="16907"> |
| 608186 | ················<Name·lang="nl">Definitie·ziekte</Name> | 608300 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| 608187 | ··············</TextSectionType> | 608301 | ··············</TextSectionType> |
| 608188 | ··············<Contents>Een·syndroom·bestaande·uit·de·associatie·van·congenitale·nefronoftisis·die·leidt·tot·nierfalen,·en·leverfibrose.·Het·werd·beschreven·bij·vijf·leden·van·één·familie,·waarvan·er·twee·stierven·als·gevolg·van·nierfalen.·De·associatie·van·syndroom·van·Boichis·met·tapetoretinale·degeneratie·en·intellectuele·beperking·werd·ook·gerapporteerd·bij·één·familie:·het·zogenaamde·syndroom·van·Senior-Boichis·zou·in·feite·dezelfde·entiteit·kunnen·zijn,·en·werd·later·gerapporteerd·bij·een·12·jaar·oud·kind.</Contents> | 608302 | ··············<Contents>Een·zeldzame·ciliopathie,·gekarakteriseerd·door·de·associatie·van·nefronoftise·en·leverfibrose.·Manifestaties·van·nier·zijn·onder·meer·chronisch·nierfalen,·polyurie,·polydipsie,·anemie,·alsook·verhoogde·echogeniciteit·bij·echografie·van·de·nieren,·en·interstitiële·fibrose·en·dilatatie·van·niertubuli·bij·biopsie.·Betrokkenheid·van·lever·manifesteert·zich·als·hepatosplenomegalie·met·uitgebreide·fibrose,·destructie·van·galwegen,·en·cholestase.·Milde·psychomotorische·achterstand·en·oculaire·symptomen,·zoals·strabisme,·nystagmus,·retinadegeneratie,·en·anisocorie,·werden·bij·sommige·patiënten·gerapporteerd.</Contents> |
| 608189 | ············</TextSection> | 608303 | ············</TextSection> |
| 608190 | ··········</TextSectionList> | 608304 | ··········</TextSectionList> |
| 608191 | ········</SummaryInformation> | 608305 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 608442 | ····<Disorder·id="11606"> | 608556 | ····<Disorder·id="11606"> |
| 608443 | ······<OrphaCode>84065</OrphaCode> | 608557 | ······<OrphaCode>84065</OrphaCode> |
| 608444 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=84065</ExpertLink> | 608558 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=84065</ExpertLink> |
| 608445 | ······<Name·lang="nl">Idiopathische·malabsorptie·als·gevolg·van·galzuursynthesedefecten</Name> | 608559 | ······<Name·lang="nl">Idiopathische·malabsorptie·door·defecten·van·galzuursynthese</Name> |
| 608446 | ······<DisorderFlagList·count="1"> | 608560 | ······<DisorderFlagList·count="1"> |
| 608447 | ········<DisorderFlag·id="475"> | 608561 | ········<DisorderFlag·id="475"> |
| 608448 | ··········<Value>1</Value> | 608562 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 611245 | ······</DisorderFlagList> | 611359 | ······</DisorderFlagList> |
| 611246 | ······<SynonymList·count="0"> | 611360 | ······<SynonymList·count="0"> |
| 611247 | ······</SynonymList> | 611361 | ······</SynonymList> |
| 611248 | ······<DisorderType·id="21394"> | 611362 | ······<DisorderType·id="21415"> |
| 611249 | ········<Name·lang="nl">Ziekte</Name> | 611363 | ········<Name·lang="nl">Morfologische·anomalie</Name> |
| 611250 | ······</DisorderType> | 611364 | ······</DisorderType> |
| 611251 | ······<DisorderGroup·id="36547"> | 611365 | ······<DisorderGroup·id="36547"> |
| 611252 | ········<Name·lang="nl">Aandoening</Name> | 611366 | ········<Name·lang="nl">Aandoening</Name> |
| ⋮ | ⋮ |
| 612959 | ········</SummaryInformation> | 613073 | ········</SummaryInformation> |
| 612960 | ······</SummaryInformationList> | 613074 | ······</SummaryInformationList> |
| 612961 | ····</Disorder> | 613075 | ····</Disorder> |
| | 613076 | ····<Disorder·id="30684"> |
| | 613077 | ······<OrphaCode>610573</OrphaCode> |
| | 613078 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=610573</ExpertLink> |
| | 613079 | ······<Name·lang="nl">CLCN6-related·childhood·onset·progressive·neurodegeneration-peripheral·neuropathy-syndrome</Name> |
| | 613080 | ······<DisorderFlagList·count="1"> |
| | 613081 | ········<DisorderFlag·id="475"> |
| | 613082 | ··········<Value>1</Value> |
| | 613083 | ··········<Label></Label> |
| | 613084 | ········</DisorderFlag> |
| | 613085 | ······</DisorderFlagList> |
| | 613086 | ······<SynonymList·count="0"> |
| | 613087 | ······</SynonymList> |
| | 613088 | ······<DisorderType·id="21394"> |
| | 613089 | ········<Name·lang="nl">Ziekte</Name> |
| | 613090 | ······</DisorderType> |
| | 613091 | ······<DisorderGroup·id="36547"> |
| | 613092 | ········<Name·lang="nl">Aandoening</Name> |
| | 613093 | ······</DisorderGroup> |
| | 613094 | ······<ExternalReferenceList·count="1"> |
| | 613095 | ········<ExternalReference·id="200356"> |
| | 613096 | ··········<Source>OMIM</Source> |
| | 613097 | ··········<Reference>619173</Reference> |
| | 613098 | ··········<DisorderMappingRelation·id="21527"> |
| | 613099 | ············<Name·lang="nl">exacte·overeenkomst·(de·termen·en·concepten·zijn·equivalent)</Name> |
| | 613100 | ··········</DisorderMappingRelation> |
| | 613101 | ··········<DisorderMappingICDRelation/> |
| | 613102 | ··········<DisorderMappingValidationStatus·id="21611"> |
| | 613103 | ············<Name·lang="nl">Gevalideerd</Name> |
| | 613104 | ··········</DisorderMappingValidationStatus> |
| | 613105 | ········</ExternalReference> |
| | 613106 | ······</ExternalReferenceList> |
| | 613107 | ······<DisorderDisorderAssociationList·count="0"> |
| | 613108 | ······</DisorderDisorderAssociationList> |
| | 613109 | ······<SummaryInformationList·count="0"> |
| | 613110 | ······</SummaryInformationList> |
| | 613111 | ····</Disorder> |
| 612962 | ····<Disorder·id="13086"> | 613112 | ····<Disorder·id="13086"> |
| 612963 | ······<OrphaCode>98068</OrphaCode> | 613113 | ······<OrphaCode>98068</OrphaCode> |
| 612964 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=98068</ExpertLink> | 613114 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=98068</ExpertLink> |
| ⋮ | ⋮ |
| 613151 | ········</SummaryInformation> | 613301 | ········</SummaryInformation> |
| 613152 | ······</SummaryInformationList> | 613302 | ······</SummaryInformationList> |
| 613153 | ····</Disorder> | 613303 | ····</Disorder> |
| | 613304 | ····<Disorder·id="30683"> |
| | 613305 | ······<OrphaCode>610569</OrphaCode> |
| | 613306 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=610569</ExpertLink> |
| | 613307 | ······<Name·lang="nl">KIAA1109-related·early·lethal-congenital·brain·mlaformations-arthrogryposis-syndrome</Name> |
| | 613308 | ······<DisorderFlagList·count="1"> |
| | 613309 | ········<DisorderFlag·id="475"> |
| | 613310 | ··········<Value>1</Value> |
| | 613311 | ··········<Label></Label> |
| | 613312 | ········</DisorderFlag> |
| | 613313 | ······</DisorderFlagList> |
| | 613314 | ······<SynonymList·count="0"> |
| | 613315 | ······</SynonymList> |
| | 613316 | ······<DisorderType·id="21394"> |
| | 613317 | ········<Name·lang="nl">Ziekte</Name> |
| | 613318 | ······</DisorderType> |
| | 613319 | ······<DisorderGroup·id="36547"> |
| | 613320 | ········<Name·lang="nl">Aandoening</Name> |
| | 613321 | ······</DisorderGroup> |
| | 613322 | ······<ExternalReferenceList·count="1"> |
| | 613323 | ········<ExternalReference·id="200353"> |
| | 613324 | ··········<Source>OMIM</Source> |
| | 613325 | ··········<Reference>617822</Reference> |
| | 613326 | ··········<DisorderMappingRelation·id="21527"> |
| | 613327 | ············<Name·lang="nl">exacte·overeenkomst·(de·termen·en·concepten·zijn·equivalent)</Name> |
| | 613328 | ··········</DisorderMappingRelation> |
| | 613329 | ··········<DisorderMappingICDRelation/> |
| | 613330 | ··········<DisorderMappingValidationStatus·id="21611"> |
| | 613331 | ············<Name·lang="nl">Gevalideerd</Name> |
| | 613332 | ··········</DisorderMappingValidationStatus> |
| | 613333 | ········</ExternalReference> |
| | 613334 | ······</ExternalReferenceList> |
| | 613335 | ······<DisorderDisorderAssociationList·count="0"> |
| | 613336 | ······</DisorderDisorderAssociationList> |
| | 613337 | ······<SummaryInformationList·count="0"> |
| | 613338 | ······</SummaryInformationList> |
| | 613339 | ····</Disorder> |
| 613154 | ····<Disorder·id="13082"> | 613340 | ····<Disorder·id="13082"> |
| 613155 | ······<OrphaCode>98064</OrphaCode> | 613341 | ······<OrphaCode>98064</OrphaCode> |
| 613156 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=98064</ExpertLink> | 613342 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=98064</ExpertLink> |
| ⋮ | ⋮ |
| 614974 | ······<SummaryInformationList·count="0"> | 615160 | ······<SummaryInformationList·count="0"> |
| 614975 | ······</SummaryInformationList> | 615161 | ······</SummaryInformationList> |
| 614976 | ····</Disorder> | 615162 | ····</Disorder> |
| | 615163 | ····<Disorder·id="30477"> |
| | 615164 | ······<OrphaCode>600691</OrphaCode> |
| | 615165 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=600691</ExpertLink> |
| | 615166 | ······<Name·lang="nl">Gecombineerde·deficiëntie·van·factor·VII·en·factor·X</Name> |
| | 615167 | ······<DisorderFlagList·count="1"> |
| | 615168 | ········<DisorderFlag·id="475"> |
| | 615169 | ··········<Value>1</Value> |
| | 615170 | ··········<Label></Label> |
| | 615171 | ········</DisorderFlag> |
| | 615172 | ······</DisorderFlagList> |
| | 615173 | ······<SynonymList·count="0"> |
| | 615174 | ······</SynonymList> |
| | 615175 | ······<DisorderType·id="21394"> |
| | 615176 | ········<Name·lang="nl">Ziekte</Name> |
| | 615177 | ······</DisorderType> |
| | 615178 | ······<DisorderGroup·id="36547"> |
| | 615179 | ········<Name·lang="nl">Aandoening</Name> |
| | 615180 | ······</DisorderGroup> |
| | 615181 | ······<ExternalReferenceList·count="0"> |
| | 615182 | ······</ExternalReferenceList> |
| | 615183 | ······<DisorderDisorderAssociationList·count="0"> |
| | 615184 | ······</DisorderDisorderAssociationList> |
| | 615185 | ······<SummaryInformationList·count="0"> |
| | 615186 | ······</SummaryInformationList> |
| | 615187 | ····</Disorder> |
| 614977 | ····<Disorder·id="30478"> | 615188 | ····<Disorder·id="30478"> |
| 614978 | ······<OrphaCode>600731</OrphaCode> | 615189 | ······<OrphaCode>600731</OrphaCode> |
| 614979 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=600731</ExpertLink> | 615190 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=600731</ExpertLink> |
| ⋮ | ⋮ |
| 617705 | ······</ExternalReferenceList> | 617916 | ······</ExternalReferenceList> |
| 617706 | ······<DisorderDisorderAssociationList·count="0"> | 617917 | ······<DisorderDisorderAssociationList·count="0"> |
| 617707 | ······</DisorderDisorderAssociationList> | 617918 | ······</DisorderDisorderAssociationList> |
| 617708 | ······<SummaryInformationList·count="0"> | 617919 | ······<SummaryInformationList·count="1"> |
| | 617920 | ········<SummaryInformation·id="129117"·lang="nl"> |
| | 617921 | ··········<TextSectionList·count="1"> |
| | 617922 | ············<TextSection·id="167970"·lang="nl"> |
| | 617923 | ··············<TextSectionType·id="16907"> |
| | 617924 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 617925 | ··············</TextSectionType> |
| | 617926 | ··············<Contents>Een·zeldzaam·neuro-endocrien·neoplasma,·gekarakteriseerd·door·een·oorsprong·in·pulmonale·neuro-endocriene·cellen·en·gaande·van·laaggradig·typisch·carcinoïd·en·intermediair·atypisch·carcinoïd·tot·hooggradig·grootcellig·neuro-endocrien·carcinoom·en·kleincellig·carcinoom.·Twee·derde·van·de·tumoren·zijn·gesitueerd·in·de·hoofdbronchiën,·met·een·voorkeur·voor·de·rechterlong,·vooral·in·de·middelste·longkwab.·De·meeste·patiënten·met·centrale·bronchiale·tumoren·presenteren·zich·met·hemoptoë,·hoest,·recidiverende·longinfecties,·koorts,·thoracaal·ongemak,·en·unilaterale·piepende·ademhaling,·terwijl·perifere·carcinoïden·meestal·maar·toevallig·ontdekt·worden.·Carcinoïdsyndroom·en·syndroom·van·Cushing·zijn·zeer·zeldzaam.·De·tumoren·kunnen·deel·uitmaken·van·multipele·endocriene·neoplasie·type·1.</Contents> |
| | 617927 | ············</TextSection> |
| | 617928 | ··········</TextSectionList> |
| | 617929 | ········</SummaryInformation> |
| 617709 | ······</SummaryInformationList> | 617930 | ······</SummaryInformationList> |
| 617710 | ····</Disorder> | 617931 | ····</Disorder> |
| 617711 | ····<Disorder·id="12886"> | 617932 | ····<Disorder·id="12886"> |
| ⋮ | ⋮ |
| 618151 | ··········<Label></Label> | 618372 | ··········<Label></Label> |
| 618152 | ········</DisorderFlag> | 618373 | ········</DisorderFlag> |
| 618153 | ······</DisorderFlagList> | 618374 | ······</DisorderFlagList> |
| 618154 | ······<SynonymList·count="3"> | 618375 | ······<SynonymList·count="2"> |
| 618155 | ········<Synonym·lang="nl">Neurovasculair·compressiesyndroom</Synonym> | |
| 618156 | ········<Synonym·lang="nl">Schoudergordelsyndroom</Synonym> | |
| 618157 | ········<Synonym·lang="nl">TOS</Synonym> | 618376 | ········<Synonym·lang="nl">TOS</Synonym> |
| | 618377 | ········<Synonym·lang="nl">Thoracic·outlet-compressiesyndroom</Synonym> |
| 618158 | ······</SynonymList> | 618378 | ······</SynonymList> |
| 618159 | ······<DisorderType·id="21394"> | 618379 | ······<DisorderType·id="21394"> |
| 618160 | ········<Name·lang="nl">Ziekte</Name> | 618380 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 619594 | ······</ExternalReferenceList> | 619814 | ······</ExternalReferenceList> |
| 619595 | ······<DisorderDisorderAssociationList·count="0"> | 619815 | ······<DisorderDisorderAssociationList·count="0"> |
| 619596 | ······</DisorderDisorderAssociationList> | 619816 | ······</DisorderDisorderAssociationList> |
| 619597 | ······<SummaryInformationList·count="0"> | 619817 | ······<SummaryInformationList·count="1"> |
| | 619818 | ········<SummaryInformation·id="129148"·lang="nl"> |
| | 619819 | ··········<TextSectionList·count="1"> |
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| | 619821 | ··············<TextSectionType·id="16907"> |
| | 619822 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 619823 | ··············</TextSectionType> |
| | 619824 | ··············<Contents>Een·zeldzame·goedaardige·tumor·van·nier,·gekarakteriseerd·door·een·doorgaans·unilaterale,·solitaire,·multiloculaire·cystische·massa·bestaande·uit·kleine,·niet-communicerende·cysten·met·platte,·cuboïdale·of·kopspijker-achtige·epitheliale·bekleding,·gescheiden·door·fibreuze·septa·die·kunnen·lijken·op·ovarieel·stroma·of·weinig·cellen·bevatten.·De·tumor·wordt·omringd·door·een·dikke·fibreuze·capsule·en·bevat·geen·solide·delen·of·necrose.·Patiënten·kunnen·asymptomatisch·zijn,·of·zich·presenteren·met·een·palpabele·abdominale·massa·en/of·abdominale·pijn·of·flankpijn.·De·leeftijdsverdeling·is·bimodaal,·met·een·typische·aanvangsleeftijd·onder·vijf·jaar·of·tussen·40·en·70·jaar.</Contents> |
| | 619825 | ············</TextSection> |
| | 619826 | ··········</TextSectionList> |
| | 619827 | ········</SummaryInformation> |
| 619598 | ······</SummaryInformationList> | 619828 | ······</SummaryInformationList> |
| 619599 | ····</Disorder> | 619829 | ····</Disorder> |
| 619600 | ····<Disorder·id="12918"> | 619830 | ····<Disorder·id="12918"> |
| ⋮ | ⋮ |
| 621249 | ······</DisorderFlagList> | 621479 | ······</DisorderFlagList> |
| 621250 | ······<SynonymList·count="3"> | 621480 | ······<SynonymList·count="3"> |
| 621251 | ········<Synonym·lang="nl">Corticotroop·hypofyseadenoom</Synonym> | 621481 | ········<Synonym·lang="nl">Corticotroop·hypofyseadenoom</Synonym> |
| 621252 | ········<Synonym·lang="nl">Hypofysair·corticotroop·micro-adenoom</Synonym> | 621482 | ········<Synonym·lang="nl">Hypofysair·corticotroop·microadenoom</Synonym> |
| 621253 | ········<Synonym·lang="nl">Hypofyseafhankelijk·Cushingsyndroom</Synonym> | 621483 | ········<Synonym·lang="nl">Hypofyseafhankelijk·syndroom·van·Cushing</Synonym> |
| 621254 | ······</SynonymList> | 621484 | ······</SynonymList> |
| 621255 | ······<DisorderType·id="21394"> | 621485 | ······<DisorderType·id="21394"> |
| 621256 | ········<Name·lang="nl">Ziekte</Name> | 621486 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 623026 | ········</SummaryInformation> | 623256 | ········</SummaryInformation> |
| 623027 | ······</SummaryInformationList> | 623257 | ······</SummaryInformationList> |
| 623028 | ····</Disorder> | 623258 | ····</Disorder> |
| | 623259 | ····<Disorder·id="30241"> |
| | 623260 | ······<OrphaCode>600194</OrphaCode> |
| | 623261 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=600194</ExpertLink> |
| | 623262 | ······<Name·lang="nl">Stollingsstoornis·door·factor·V·Atlanta</Name> |
| | 623263 | ······<DisorderFlagList·count="1"> |
| | 623264 | ········<DisorderFlag·id="475"> |
| | 623265 | ··········<Value>1</Value> |
| | 623266 | ··········<Label></Label> |
| | 623267 | ········</DisorderFlag> |
| | 623268 | ······</DisorderFlagList> |
| | 623269 | ······<SynonymList·count="0"> |
| | 623270 | ······</SynonymList> |
| | 623271 | ······<DisorderType·id="21443"> |
| | 623272 | ········<Name·lang="nl">Etiologisch·subtype</Name> |
| | 623273 | ······</DisorderType> |
| | 623274 | ······<DisorderGroup·id="36554"> |
| | 623275 | ········<Name·lang="nl">Subtype·van·aandoening</Name> |
| | 623276 | ······</DisorderGroup> |
| | 623277 | ······<ExternalReferenceList·count="0"> |
| | 623278 | ······</ExternalReferenceList> |
| | 623279 | ······<DisorderDisorderAssociationList·count="0"> |
| | 623280 | ······</DisorderDisorderAssociationList> |
| | 623281 | ······<SummaryInformationList·count="0"> |
| | 623282 | ······</SummaryInformationList> |
| | 623283 | ····</Disorder> |
| 623029 | ····<Disorder·id="13028"> | 623284 | ····<Disorder·id="13028"> |
| 623030 | ······<OrphaCode>98010</OrphaCode> | 623285 | ······<OrphaCode>98010</OrphaCode> |
| 623031 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=98010</ExpertLink> | 623286 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=98010</ExpertLink> |
| ⋮ | ⋮ |
| 625119 | ······</ExternalReferenceList> | 625374 | ······</ExternalReferenceList> |
| 625120 | ······<DisorderDisorderAssociationList·count="0"> | 625375 | ······<DisorderDisorderAssociationList·count="0"> |
| 625121 | ······</DisorderDisorderAssociationList> | 625376 | ······</DisorderDisorderAssociationList> |
| 625122 | ······<SummaryInformationList·count="1"> | 625377 | ······<SummaryInformationList·count="0"> |
| 625123 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 625124 | ··········<TextSectionList·count="0"> | |
| 625125 | ··········</TextSectionList> | |
| 625126 | ··········<TextAuto> | |
| 625127 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 625128 | ··········</TextAuto> | |
| 625129 | ········</SummaryInformation> | |
| 625130 | ······</SummaryInformationList> | 625378 | ······</SummaryInformationList> |
| 625131 | ····</Disorder> | 625379 | ····</Disorder> |
| 625132 | ····<Disorder·id="12666"> | 625380 | ····<Disorder·id="12666"> |
| ⋮ | ⋮ |
| 625165 | ······</ExternalReferenceList> | 625413 | ······</ExternalReferenceList> |
| 625166 | ······<DisorderDisorderAssociationList·count="0"> | 625414 | ······<DisorderDisorderAssociationList·count="0"> |
| 625167 | ······</DisorderDisorderAssociationList> | 625415 | ······</DisorderDisorderAssociationList> |
| 625168 | ······<SummaryInformationList·count="1"> | 625416 | ······<SummaryInformationList·count="0"> |
| 625169 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 625170 | ··········<TextSectionList·count="0"> | |
| 625171 | ··········</TextSectionList> | |
| 625172 | ··········<TextAuto> | |
| 625173 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 625174 | ··········</TextAuto> | |
| 625175 | ········</SummaryInformation> | |
| 625176 | ······</SummaryInformationList> | 625417 | ······</SummaryInformationList> |
| 625177 | ····</Disorder> | 625418 | ····</Disorder> |
| 625178 | ····<Disorder·id="12667"> | 625419 | ····<Disorder·id="12667"> |
| ⋮ | ⋮ |
| 625281 | ······</ExternalReferenceList> | 625522 | ······</ExternalReferenceList> |
| 625282 | ······<DisorderDisorderAssociationList·count="0"> | 625523 | ······<DisorderDisorderAssociationList·count="0"> |
| 625283 | ······</DisorderDisorderAssociationList> | 625524 | ······</DisorderDisorderAssociationList> |
| 625284 | ······<SummaryInformationList·count="1"> | 625525 | ······<SummaryInformationList·count="0"> |
| 625285 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 625286 | ··········<TextSectionList·count="0"> | |
| 625287 | ··········</TextSectionList> | |
| 625288 | ··········<TextAuto> | |
| 625289 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 625290 | ··········</TextAuto> | |
| 625291 | ········</SummaryInformation> | |
| 625292 | ······</SummaryInformationList> | 625526 | ······</SummaryInformationList> |
| 625293 | ····</Disorder> | 625527 | ····</Disorder> |
| 625294 | ····<Disorder·id="12665"> | 625528 | ····<Disorder·id="12665"> |
| ⋮ | ⋮ |
| 625326 | ······</ExternalReferenceList> | 625560 | ······</ExternalReferenceList> |
| 625327 | ······<DisorderDisorderAssociationList·count="0"> | 625561 | ······<DisorderDisorderAssociationList·count="0"> |
| 625328 | ······</DisorderDisorderAssociationList> | 625562 | ······</DisorderDisorderAssociationList> |
| 625329 | ······<SummaryInformationList·count="1"> | 625563 | ······<SummaryInformationList·count="0"> |
| 625330 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 625331 | ··········<TextSectionList·count="0"> | |
| 625332 | ··········</TextSectionList> | |
| 625333 | ··········<TextAuto> | |
| 625334 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 625335 | ··········</TextAuto> | |
| 625336 | ········</SummaryInformation> | |
| 625337 | ······</SummaryInformationList> | 625564 | ······</SummaryInformationList> |
| 625338 | ····</Disorder> | 625565 | ····</Disorder> |
| 625339 | ····<Disorder·id="12647"> | 625566 | ····<Disorder·id="12647"> |
| ⋮ | ⋮ |
| 625814 | ····<Disorder·id="12654"> | 626041 | ····<Disorder·id="12654"> |
| 625815 | ······<OrphaCode>95699</OrphaCode> | 626042 | ······<OrphaCode>95699</OrphaCode> |
| 625816 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=95699</ExpertLink> | 626043 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=95699</ExpertLink> |
| 625817 | ······<Name·lang="nl">Congenitale·adrenale·hyperplasie·als·gevolg·van·cytochroom·P450-oxidoreductasedeficiëntie</Name> | 626044 | ······<Name·lang="nl">Congenitale·hyperplasie·van·bijnier·door·deficiëntie·van·cytochroom·P450-oxidoreductase</Name> |
| 625818 | ······<DisorderFlagList·count="1"> | 626045 | ······<DisorderFlagList·count="1"> |
| 625819 | ········<DisorderFlag·id="475"> | 626046 | ········<DisorderFlag·id="475"> |
| 625820 | ··········<Value>1</Value> | 626047 | ··········<Value>1</Value> |
| 625821 | ··········<Label></Label> | 626048 | ··········<Label></Label> |
| 625822 | ········</DisorderFlag> | 626049 | ········</DisorderFlag> |
| 625823 | ······</DisorderFlagList> | 626050 | ······</DisorderFlagList> |
| 625824 | ······<SynonymList·count="4"> | 626051 | ······<SynonymList·count="3"> |
| 625825 | ········<Synonym·lang="nl">Congenitale·bijnierhyperplasie·als·gevolg·van·cytochroom·P450-oxidoreductasedeficiëntie</Synonym> | 626052 | ········<Synonym·lang="nl">Congenitale·bijnierhyperplasie·door·cytochroom·POR-deficiëntie</Synonym> |
| 625826 | ········<Synonym·lang="nl">Congenitale·bijnierhyperplasie·als·gevolg·van·cytochroom·POR-deficiëntie</Synonym> | |
| 625827 | ········<Synonym·lang="nl">POR-deficiëntie</Synonym> | 626053 | ········<Synonym·lang="nl">POR-deficiëntie</Synonym> |
| 625828 | ········<Synonym·lang="nl">PORD</Synonym> | 626054 | ········<Synonym·lang="nl">PORD</Synonym> |
| 625829 | ······</SynonymList> | 626055 | ······</SynonymList> |
| ⋮ | ⋮ |
| 626797 | ········<DisorderDisorderAssociation> | 627023 | ········<DisorderDisorderAssociation> |
| 626798 | ··········<TargetDisorder·id="12138"> | 627024 | ··········<TargetDisorder·id="12138"> |
| 626799 | ············<OrphaCode>91387</OrphaCode> | 627025 | ············<OrphaCode>91387</OrphaCode> |
| 626800 | ············<Name·lang="nl">Familiaal·thoracaal·aorta-aneurysma</Name> | 627026 | ············<Name·lang="nl">Familiale·dissectie·en·aneurysma·van·thoracale·aorta</Name> |
| 626801 | ··········</TargetDisorder> | 627027 | ··········</TargetDisorder> |
| 626802 | ··········<RootDisorder·id="12608"·cycle="true"/> | 627028 | ··········<RootDisorder·id="12608"·cycle="true"/> |
| 626803 | ··········<DisorderDisorderAssociationType·id="27341"> | 627029 | ··········<DisorderDisorderAssociationType·id="27341"> |
| ⋮ | ⋮ |
| 626908 | ····<Disorder·id="12620"> | 627134 | ····<Disorder·id="12620"> |
| 626909 | ······<OrphaCode>95496</OrphaCode> | 627135 | ······<OrphaCode>95496</OrphaCode> |
| 626910 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=95496</ExpertLink> | 627136 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=95496</ExpertLink> |
| 626911 | ······<Name·lang="nl">Hypofysesteelonderbrekingsyndroom</Name> | 627137 | ······<Name·lang="nl">Syndroom·van·onderbreking·van·hypofysesteel</Name> |
| 626912 | ······<DisorderFlagList·count="1"> | 627138 | ······<DisorderFlagList·count="1"> |
| 626913 | ········<DisorderFlag·id="475"> | 627139 | ········<DisorderFlag·id="475"> |
| 626914 | ··········<Value>1</Value> | 627140 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 628262 | ······</ExternalReferenceList> | 628488 | ······</ExternalReferenceList> |
| 628263 | ······<DisorderDisorderAssociationList·count="0"> | 628489 | ······<DisorderDisorderAssociationList·count="0"> |
| 628264 | ······</DisorderDisorderAssociationList> | 628490 | ······</DisorderDisorderAssociationList> |
| 628265 | ······<SummaryInformationList·count="1"> | 628491 | ······<SummaryInformationList·count="0"> |
| 628266 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 628267 | ··········<TextSectionList·count="0"> | |
| 628268 | ··········</TextSectionList> | |
| 628269 | ··········<TextAuto> | |
| 628270 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 628271 | ··········</TextAuto> | |
| 628272 | ········</SummaryInformation> | |
| 628273 | ······</SummaryInformationList> | 628492 | ······</SummaryInformationList> |
| 628274 | ····</Disorder> | 628493 | ····</Disorder> |
| 628275 | ····<Disorder·id="12580"> | 628494 | ····<Disorder·id="12580"> |
| ⋮ | ⋮ |
| 629691 | ····<Disorder·id="12544"> | 629910 | ····<Disorder·id="12544"> |
| 629692 | ······<OrphaCode>94063</OrphaCode> | 629911 | ······<OrphaCode>94063</OrphaCode> |
| 629693 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=94063</ExpertLink> | 629912 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=94063</ExpertLink> |
| 629694 | ······<Name·lang="nl">12q14·microdeletiesyndroom</Name> | 629913 | ······<Name·lang="nl">12q14-microdeletiesyndroom</Name> |
| 629695 | ······<DisorderFlagList·count="1"> | 629914 | ······<DisorderFlagList·count="1"> |
| 629696 | ········<DisorderFlag·id="475"> | 629915 | ········<DisorderFlag·id="475"> |
| 629697 | ··········<Value>1</Value> | 629916 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 629702 | ········<Synonym·lang="nl">Del(12)(q14)</Synonym> | 629921 | ········<Synonym·lang="nl">Del(12)(q14)</Synonym> |
| 629703 | ········<Synonym·lang="nl">Deletie·12q14</Synonym> | 629922 | ········<Synonym·lang="nl">Deletie·12q14</Synonym> |
| 629704 | ········<Synonym·lang="nl">Monosomie·12q14</Synonym> | 629923 | ········<Synonym·lang="nl">Monosomie·12q14</Synonym> |
| 629705 | ········<Synonym·lang="nl">Osteopoikilose·-·klein·gestalte·-·intellectuele·achterstand</Synonym> | 629924 | ········<Synonym·lang="nl">Osteopoikilose·-·kleine·gestalte·-·intellectuele·achterstand-syndroom</Synonym> |
| 629706 | ······</SynonymList> | 629925 | ······</SynonymList> |
| 629707 | ······<DisorderType·id="21401"> | 629926 | ······<DisorderType·id="21401"> |
| 629708 | ········<Name·lang="nl">Malformatiesyndroom</Name> | 629927 | ········<Name·lang="nl">Malformatiesyndroom</Name> |
| ⋮ | ⋮ |
| 631552 | ····<Disorder·id="12771"> | 631771 | ····<Disorder·id="12771"> |
| 631553 | ······<OrphaCode>96147</OrphaCode> | 631772 | ······<OrphaCode>96147</OrphaCode> |
| 631554 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=96147</ExpertLink> | 631773 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=96147</ExpertLink> |
| 631555 | ······<Name·lang="nl">Kleefstrasyndroom·als·gevolg·van·9q34·microdeletie</Name> | 631774 | ······<Name·lang="nl">Syndroom·van·Kleefstra·door·9q34-microdeletie</Name> |
| 631556 | ······<DisorderFlagList·count="1"> | 631775 | ······<DisorderFlagList·count="1"> |
| 631557 | ········<DisorderFlag·id="475"> | 631776 | ········<DisorderFlag·id="475"> |
| 631558 | ··········<Value>1</Value> | 631777 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 631562 | ······<SynonymList·count="5"> | 631781 | ······<SynonymList·count="5"> |
| 631563 | ········<Synonym·lang="nl">9p·subtelomerisch·deletiesyndroom</Synonym> | 631782 | ········<Synonym·lang="nl">9p·subtelomerisch·deletiesyndroom</Synonym> |
| 631564 | ········<Synonym·lang="nl">9qSTDS</Synonym> | 631783 | ········<Synonym·lang="nl">9qSTDS</Synonym> |
| 631565 | ········<Synonym·lang="nl">Kleefstrasyndroom·als·gevolg·van·9q·subtelomerische·deletie</Synonym> | 631784 | ········<Synonym·lang="nl">Syndroom·van·Kleefstra·door·9q·subtelomerische·deletie</Synonym> |
| 631566 | ········<Synonym·lang="nl">Kleefstrasyndroom·als·gevolg·van·del(9)(q34)</Synonym> | 631785 | ········<Synonym·lang="nl">Syndroom·van·Kleefstra·door·del(9)(q34)</Synonym> |
| 631567 | ········<Synonym·lang="nl">Kleefstrasyndroom·als·gevolg·van·monosomie·9q34</Synonym> | 631786 | ········<Synonym·lang="nl">Syndroom·van·Kleefstra·door·monosomie·9q34</Synonym> |
| 631568 | ······</SynonymList> | 631787 | ······</SynonymList> |
| 631569 | ······<DisorderType·id="21443"> | 631788 | ······<DisorderType·id="21443"> |
| 631570 | ········<Name·lang="nl">Etiologisch·subtype</Name> | 631789 | ········<Name·lang="nl">Etiologisch·subtype</Name> |
| ⋮ | ⋮ |
| 634394 | ····<Disorder·id="12399"> | 634613 | ····<Disorder·id="12399"> |
| 634395 | ······<OrphaCode>93557</OrphaCode> | 634614 | ······<OrphaCode>93557</OrphaCode> |
| 634396 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93557</ExpertLink> | 634615 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93557</ExpertLink> |
| 634397 | ······<Name·lang="nl">Lichte·en·zware·ketenafzettingziekte</Name> | 634616 | ······<Name·lang="nl">Lichte-·en·zwareketendepositieziekte</Name> |
| 634398 | ······<DisorderFlagList·count="1"> | 634617 | ······<DisorderFlagList·count="1"> |
| 634399 | ········<DisorderFlag·id="475"> | 634618 | ········<DisorderFlag·id="475"> |
| 634400 | ··········<Value>1</Value> | 634619 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 634468 | ····<Disorder·id="12398"> | 634687 | ····<Disorder·id="12398"> |
| 634469 | ······<OrphaCode>93556</OrphaCode> | 634688 | ······<OrphaCode>93556</OrphaCode> |
| 634470 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93556</ExpertLink> | 634689 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93556</ExpertLink> |
| 634471 | ······<Name·lang="nl">Zware·ketenafzettingziekte</Name> | 634690 | ······<Name·lang="nl">Zwareketendepositieziekte</Name> |
| 634472 | ······<DisorderFlagList·count="1"> | 634691 | ······<DisorderFlagList·count="1"> |
| 634473 | ········<DisorderFlag·id="475"> | 634692 | ········<DisorderFlag·id="475"> |
| 634474 | ··········<Value>1</Value> | 634693 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 635018 | ····<Disorder·id="12400"> | 635237 | ····<Disorder·id="12400"> |
| 635019 | ······<OrphaCode>93558</OrphaCode> | 635238 | ······<OrphaCode>93558</OrphaCode> |
| 635020 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93558</ExpertLink> | 635239 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93558</ExpertLink> |
| 635021 | ······<Name·lang="nl">Lichte·ketenafzettingziekte</Name> | 635240 | ······<Name·lang="nl">Lichteketendepositieziekte</Name> |
| 635022 | ······<DisorderFlagList·count="1"> | 635241 | ······<DisorderFlagList·count="1"> |
| 635023 | ········<DisorderFlag·id="475"> | 635242 | ········<DisorderFlag·id="475"> |
| 635024 | ··········<Value>1</Value> | 635243 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 638099 | ········</SummaryInformation> | 638318 | ········</SummaryInformation> |
| 638100 | ······</SummaryInformationList> | 638319 | ······</SummaryInformationList> |
| 638101 | ····</Disorder> | 638320 | ····</Disorder> |
| | 638321 | ····<Disorder·id="29927"> |
| | 638322 | ······<OrphaCode>599480</OrphaCode> |
| | 638323 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=599480</ExpertLink> |
| | 638324 | ······<Name·lang="nl">Verworven·hemofilie·A</Name> |
| | 638325 | ······<DisorderFlagList·count="1"> |
| | 638326 | ········<DisorderFlag·id="475"> |
| | 638327 | ··········<Value>1</Value> |
| | 638328 | ··········<Label></Label> |
| | 638329 | ········</DisorderFlag> |
| | 638330 | ······</DisorderFlagList> |
| | 638331 | ······<SynonymList·count="1"> |
| | 638332 | ········<Synonym·lang="nl">AHA</Synonym> |
| | 638333 | ······</SynonymList> |
| | 638334 | ······<DisorderType·id="21394"> |
| | 638335 | ········<Name·lang="nl">Ziekte</Name> |
| | 638336 | ······</DisorderType> |
| | 638337 | ······<DisorderGroup·id="36547"> |
| | 638338 | ········<Name·lang="nl">Aandoening</Name> |
| | 638339 | ······</DisorderGroup> |
| | 638340 | ······<ExternalReferenceList·count="0"> |
| | 638341 | ······</ExternalReferenceList> |
| | 638342 | ······<DisorderDisorderAssociationList·count="0"> |
| | 638343 | ······</DisorderDisorderAssociationList> |
| | 638344 | ······<SummaryInformationList·count="0"> |
| | 638345 | ······</SummaryInformationList> |
| | 638346 | ····</Disorder> |
| | 638347 | ····<Disorder·id="29928"> |
| | 638348 | ······<OrphaCode>599485</OrphaCode> |
| | 638349 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=599485</ExpertLink> |
| | 638350 | ······<Name·lang="nl">Verworven·hemofilie·B</Name> |
| | 638351 | ······<DisorderFlagList·count="1"> |
| | 638352 | ········<DisorderFlag·id="475"> |
| | 638353 | ··········<Value>1</Value> |
| | 638354 | ··········<Label></Label> |
| | 638355 | ········</DisorderFlag> |
| | 638356 | ······</DisorderFlagList> |
| | 638357 | ······<SynonymList·count="1"> |
| | 638358 | ········<Synonym·lang="nl">AHB</Synonym> |
| | 638359 | ······</SynonymList> |
| | 638360 | ······<DisorderType·id="21394"> |
| | 638361 | ········<Name·lang="nl">Ziekte</Name> |
| | 638362 | ······</DisorderType> |
| | 638363 | ······<DisorderGroup·id="36547"> |
| | 638364 | ········<Name·lang="nl">Aandoening</Name> |
| | 638365 | ······</DisorderGroup> |
| | 638366 | ······<ExternalReferenceList·count="0"> |
| | 638367 | ······</ExternalReferenceList> |
| | 638368 | ······<DisorderDisorderAssociationList·count="0"> |
| | 638369 | ······</DisorderDisorderAssociationList> |
| | 638370 | ······<SummaryInformationList·count="0"> |
| | 638371 | ······</SummaryInformationList> |
| | 638372 | ····</Disorder> |
| 638102 | ····<Disorder·id="12328"> | 638373 | ····<Disorder·id="12328"> |
| 638103 | ······<OrphaCode>93406</OrphaCode> | 638374 | ······<OrphaCode>93406</OrphaCode> |
| 638104 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93406</ExpertLink> | 638375 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93406</ExpertLink> |
| ⋮ | ⋮ |
| 638206 | ········</SummaryInformation> | 638477 | ········</SummaryInformation> |
| 638207 | ······</SummaryInformationList> | 638478 | ······</SummaryInformationList> |
| 638208 | ····</Disorder> | 638479 | ····</Disorder> |
| | 638480 | ····<Disorder·id="29929"> |
| | 638481 | ······<OrphaCode>599490</OrphaCode> |
| | 638482 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=599490</ExpertLink> |
| | 638483 | ······<Name·lang="nl">Verworven·deficiëntie·van·factor·V</Name> |
| | 638484 | ······<DisorderFlagList·count="1"> |
| | 638485 | ········<DisorderFlag·id="475"> |
| | 638486 | ··········<Value>1</Value> |
| | 638487 | ··········<Label></Label> |
| | 638488 | ········</DisorderFlag> |
| | 638489 | ······</DisorderFlagList> |
| | 638490 | ······<SynonymList·count="0"> |
| | 638491 | ······</SynonymList> |
| | 638492 | ······<DisorderType·id="21394"> |
| | 638493 | ········<Name·lang="nl">Ziekte</Name> |
| | 638494 | ······</DisorderType> |
| | 638495 | ······<DisorderGroup·id="36547"> |
| | 638496 | ········<Name·lang="nl">Aandoening</Name> |
| | 638497 | ······</DisorderGroup> |
| | 638498 | ······<ExternalReferenceList·count="0"> |
| | 638499 | ······</ExternalReferenceList> |
| | 638500 | ······<DisorderDisorderAssociationList·count="0"> |
| | 638501 | ······</DisorderDisorderAssociationList> |
| | 638502 | ······<SummaryInformationList·count="0"> |
| | 638503 | ······</SummaryInformationList> |
| | 638504 | ····</Disorder> |
| 638209 | ····<Disorder·id="12331"> | 638505 | ····<Disorder·id="12331"> |
| 638210 | ······<OrphaCode>93409</OrphaCode> | 638506 | ······<OrphaCode>93409</OrphaCode> |
| 638211 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93409</ExpertLink> | 638507 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93409</ExpertLink> |
| ⋮ | ⋮ |
| 638280 | ······<SummaryInformationList·count="0"> | 638576 | ······<SummaryInformationList·count="0"> |
| 638281 | ······</SummaryInformationList> | 638577 | ······</SummaryInformationList> |
| 638282 | ····</Disorder> | 638578 | ····</Disorder> |
| | 638579 | ····<Disorder·id="29931"> |
| | 638580 | ······<OrphaCode>599501</OrphaCode> |
| | 638581 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=599501</ExpertLink> |
| | 638582 | ······<Name·lang="nl">Verworven·deficiëntie·van·factor·X</Name> |
| | 638583 | ······<DisorderFlagList·count="1"> |
| | 638584 | ········<DisorderFlag·id="475"> |
| | 638585 | ··········<Value>1</Value> |
| | 638586 | ··········<Label></Label> |
| | 638587 | ········</DisorderFlag> |
| | 638588 | ······</DisorderFlagList> |
| | 638589 | ······<SynonymList·count="1"> |
| | 638590 | ········<Synonym·lang="nl">aFX</Synonym> |
| | 638591 | ······</SynonymList> |
| | 638592 | ······<DisorderType·id="21394"> |
| | 638593 | ········<Name·lang="nl">Ziekte</Name> |
| | 638594 | ······</DisorderType> |
| | 638595 | ······<DisorderGroup·id="36547"> |
| | 638596 | ········<Name·lang="nl">Aandoening</Name> |
| | 638597 | ······</DisorderGroup> |
| | 638598 | ······<ExternalReferenceList·count="0"> |
| | 638599 | ······</ExternalReferenceList> |
| | 638600 | ······<DisorderDisorderAssociationList·count="0"> |
| | 638601 | ······</DisorderDisorderAssociationList> |
| | 638602 | ······<SummaryInformationList·count="0"> |
| | 638603 | ······</SummaryInformationList> |
| | 638604 | ····</Disorder> |
| 638283 | ····<Disorder·id="12333"> | 638605 | ····<Disorder·id="12333"> |
| 638284 | ······<OrphaCode>93419</OrphaCode> | 638606 | ······<OrphaCode>93419</OrphaCode> |
| 638285 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93419</ExpertLink> | 638607 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93419</ExpertLink> |
| ⋮ | ⋮ |
| 638316 | ········</SummaryInformation> | 638638 | ········</SummaryInformation> |
| 638317 | ······</SummaryInformationList> | 638639 | ······</SummaryInformationList> |
| 638318 | ····</Disorder> | 638640 | ····</Disorder> |
| | 638641 | ····<Disorder·id="29932"> |
| | 638642 | ······<OrphaCode>599507</OrphaCode> |
| | 638643 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=599507</ExpertLink> |
| | 638644 | ······<Name·lang="nl">Verworven·deficiëntie·van·factor·XI</Name> |
| | 638645 | ······<DisorderFlagList·count="1"> |
| | 638646 | ········<DisorderFlag·id="475"> |
| | 638647 | ··········<Value>1</Value> |
| | 638648 | ··········<Label></Label> |
| | 638649 | ········</DisorderFlag> |
| | 638650 | ······</DisorderFlagList> |
| | 638651 | ······<SynonymList·count="1"> |
| | 638652 | ········<Synonym·lang="nl">aFXI</Synonym> |
| | 638653 | ······</SynonymList> |
| | 638654 | ······<DisorderType·id="21394"> |
| | 638655 | ········<Name·lang="nl">Ziekte</Name> |
| | 638656 | ······</DisorderType> |
| | 638657 | ······<DisorderGroup·id="36547"> |
| | 638658 | ········<Name·lang="nl">Aandoening</Name> |
| | 638659 | ······</DisorderGroup> |
| | 638660 | ······<ExternalReferenceList·count="0"> |
| | 638661 | ······</ExternalReferenceList> |
| | 638662 | ······<DisorderDisorderAssociationList·count="0"> |
| | 638663 | ······</DisorderDisorderAssociationList> |
| | 638664 | ······<SummaryInformationList·count="0"> |
| | 638665 | ······</SummaryInformationList> |
| | 638666 | ····</Disorder> |
| | 638667 | ····<Disorder·id="29933"> |
| | 638668 | ······<OrphaCode>599513</OrphaCode> |
| | 638669 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=599513</ExpertLink> |
| | 638670 | ······<Name·lang="nl">Verworven·deficiëntie·van·factor·XIII</Name> |
| | 638671 | ······<DisorderFlagList·count="1"> |
| | 638672 | ········<DisorderFlag·id="475"> |
| | 638673 | ··········<Value>1</Value> |
| | 638674 | ··········<Label></Label> |
| | 638675 | ········</DisorderFlag> |
| | 638676 | ······</DisorderFlagList> |
| | 638677 | ······<SynonymList·count="1"> |
| | 638678 | ········<Synonym·lang="nl">aFXIII</Synonym> |
| | 638679 | ······</SynonymList> |
| | 638680 | ······<DisorderType·id="21394"> |
| | 638681 | ········<Name·lang="nl">Ziekte</Name> |
| | 638682 | ······</DisorderType> |
| | 638683 | ······<DisorderGroup·id="36547"> |
| | 638684 | ········<Name·lang="nl">Aandoening</Name> |
| | 638685 | ······</DisorderGroup> |
| | 638686 | ······<ExternalReferenceList·count="0"> |
| | 638687 | ······</ExternalReferenceList> |
| | 638688 | ······<DisorderDisorderAssociationList·count="0"> |
| | 638689 | ······</DisorderDisorderAssociationList> |
| | 638690 | ······<SummaryInformationList·count="0"> |
| | 638691 | ······</SummaryInformationList> |
| | 638692 | ····</Disorder> |
| 638319 | ····<Disorder·id="12335"> | 638693 | ····<Disorder·id="12335"> |
| 638320 | ······<OrphaCode>93421</OrphaCode> | 638694 | ······<OrphaCode>93421</OrphaCode> |
| 638321 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93421</ExpertLink> | 638695 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93421</ExpertLink> |
| ⋮ | ⋮ |
| 638380 | ········</SummaryInformation> | 638754 | ········</SummaryInformation> |
| 638381 | ······</SummaryInformationList> | 638755 | ······</SummaryInformationList> |
| 638382 | ····</Disorder> | 638756 | ····</Disorder> |
| | 638757 | ····<Disorder·id="29935"> |
| | 638758 | ······<OrphaCode>599579</OrphaCode> |
| | 638759 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=599579</ExpertLink> |
| | 638760 | ······<Name·lang="nl">Stollingsstoornis·door·factor·V·Amsterdam</Name> |
| | 638761 | ······<DisorderFlagList·count="1"> |
| | 638762 | ········<DisorderFlag·id="475"> |
| | 638763 | ··········<Value>1</Value> |
| | 638764 | ··········<Label></Label> |
| | 638765 | ········</DisorderFlag> |
| | 638766 | ······</DisorderFlagList> |
| | 638767 | ······<SynonymList·count="0"> |
| | 638768 | ······</SynonymList> |
| | 638769 | ······<DisorderType·id="21443"> |
| | 638770 | ········<Name·lang="nl">Etiologisch·subtype</Name> |
| | 638771 | ······</DisorderType> |
| | 638772 | ······<DisorderGroup·id="36554"> |
| | 638773 | ········<Name·lang="nl">Subtype·van·aandoening</Name> |
| | 638774 | ······</DisorderGroup> |
| | 638775 | ······<ExternalReferenceList·count="0"> |
| | 638776 | ······</ExternalReferenceList> |
| | 638777 | ······<DisorderDisorderAssociationList·count="0"> |
| | 638778 | ······</DisorderDisorderAssociationList> |
| | 638779 | ······<SummaryInformationList·count="0"> |
| | 638780 | ······</SummaryInformationList> |
| | 638781 | ····</Disorder> |
| 638383 | ····<Disorder·id="12336"> | 638782 | ····<Disorder·id="12336"> |
| 638384 | ······<OrphaCode>93422</OrphaCode> | 638783 | ······<OrphaCode>93422</OrphaCode> |
| 638385 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93422</ExpertLink> | 638784 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93422</ExpertLink> |
| ⋮ | ⋮ |
| 640132 | ······</ExternalReferenceList> | 640531 | ······</ExternalReferenceList> |
| 640133 | ······<DisorderDisorderAssociationList·count="0"> | 640532 | ······<DisorderDisorderAssociationList·count="0"> |
| 640134 | ······</DisorderDisorderAssociationList> | 640533 | ······</DisorderDisorderAssociationList> |
| 640135 | ······<SummaryInformationList·count="0"> | 640534 | ······<SummaryInformationList·count="1"> |
| | 640535 | ········<SummaryInformation·id="128997"·lang="nl"> |
| | 640536 | ··········<TextSectionList·count="1"> |
| | 640537 | ············<TextSection·id="167921"·lang="nl"> |
| | 640538 | ··············<TextSectionType·id="16907"> |
| | 640539 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 640540 | ··············</TextSectionType> |
| | 640541 | ··············<Contents>Een·zeldzame·congenitale·malformatie·van·ledemaat,·gekarakteriseerd·door·hypoplastische·middelste·falangen·van·vingers·2,·3·en·5,·met·relatief·gespaard·blijven·van·vinger·4,·alsook·hyperfalangie·die·meestal·vingers·2·en·3·aantast,·abnormaal·kort·eerste·metacarpaal·met·korte·duim,·en·ulnaire·deviatie·van·vingers·2·en·3.·De·ernst·van·de·malformatie·is·zeer·variabel.</Contents> |
| | 640542 | ············</TextSection> |
| | 640543 | ··········</TextSectionList> |
| | 640544 | ········</SummaryInformation> |
| 640136 | ······</SummaryInformationList> | 640545 | ······</SummaryInformationList> |
| 640137 | ····</Disorder> | 640546 | ····</Disorder> |
| 640138 | ····<Disorder·id="12309"> | 640547 | ····<Disorder·id="12309"> |
| ⋮ | ⋮ |
| 643580 | ··········<TargetDisorder·id="12501"·cycle="true"/> | 643989 | ··········<TargetDisorder·id="12501"·cycle="true"/> |
| 643581 | ··········<RootDisorder·id="492"> | 643990 | ··········<RootDisorder·id="492"> |
| 643582 | ············<OrphaCode>2005</OrphaCode> | 643991 | ············<OrphaCode>2005</OrphaCode> |
| 643583 | ············<Name·lang="nl">OBSOLEET:·Laryngo-tracheo-oesofageale·spleet·-·pulmonale·hypoplasie</Name> | 643992 | ············<Name·lang="nl">OBSOLEET:·Laryngo-tracheo-oesofageale·spleet·-·pulmonale·hypoplasie-syndroom</Name> |
| 643584 | ··········</RootDisorder> | 643993 | ··········</RootDisorder> |
| 643585 | ··········<DisorderDisorderAssociationType·id="27341"> | 643994 | ··········<DisorderDisorderAssociationType·id="27341"> |
| 643586 | ············<Name·lang="nl">Referred·to</Name> | 643995 | ············<Name·lang="nl">Referred·to</Name> |
| ⋮ | ⋮ |
| 646667 | ····<Disorder·id="12439"> | 647076 | ····<Disorder·id="12439"> |
| 646668 | ······<OrphaCode>93606</OrphaCode> | 647077 | ······<OrphaCode>93606</OrphaCode> |
| 646669 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93606</ExpertLink> | 647078 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=93606</ExpertLink> |
| 646670 | ······<Name·lang="nl">Nefrogeen·syndroom·van·ongepaste·antidiurese</Name> | 647079 | ······<Name·lang="nl">Nefrogeen·syndroom·van·inadequate·antidiurese</Name> |
| 646671 | ······<DisorderFlagList·count="1"> | 647080 | ······<DisorderFlagList·count="1"> |
| 646672 | ········<DisorderFlag·id="475"> | 647081 | ········<DisorderFlag·id="475"> |
| 646673 | ··········<Value>1</Value> | 647082 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 647950 | ··········<Label></Label> | 648359 | ··········<Label></Label> |
| 647951 | ········</DisorderFlag> | 648360 | ········</DisorderFlag> |
| 647952 | ······</DisorderFlagList> | 648361 | ······</DisorderFlagList> |
| 647953 | ······<SynonymList·count="0"> | 648362 | ······<SynonymList·count="1"> |
| | 648363 | ········<Synonym·lang="nl">Tunnel·van·aorta·naar·linkerventrikel</Synonym> |
| 647954 | ······</SynonymList> | 648364 | ······</SynonymList> |
| 647955 | ······<DisorderType·id="21450"> | 648365 | ······<DisorderType·id="21450"> |
| 647956 | ········<Name·lang="nl">Klinisch·subtype</Name> | 648366 | ········<Name·lang="nl">Klinisch·subtype</Name> |
| ⋮ | ⋮ |
| 652068 | ····<Disorder·id="14212"> | 652478 | ····<Disorder·id="14212"> |
| 652069 | ······<OrphaCode>99429</OrphaCode> | 652479 | ······<OrphaCode>99429</OrphaCode> |
| 652070 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=99429</ExpertLink> | 652480 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=99429</ExpertLink> |
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| 652081 | ········<Synonym·lang="nl">Volledige·AOS</Synonym> | |
| 652082 | ········<Synonym·lang="nl">Volledige·androgeenresistentiesyndroom</Synonym> | |
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| ⋮ | ⋮ |
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| ⋮ | ⋮ |
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| | 664687 | ········<Synonym·lang="nl">'Central·cloudy·dystrophy'·van·François</Synonym> |
| 664279 | ········<Synonym·lang="nl">CCDF</Synonym> | 664688 | ········<Synonym·lang="nl">CCDF</Synonym> |
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| ⋮ | ⋮ |
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| ⋮ | ⋮ |
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| ⋮ | ⋮ |
| 673008 | ······</ExternalReferenceList> | 673403 | ······</ExternalReferenceList> |
| 673009 | ······<DisorderDisorderAssociationList·count="0"> | 673404 | ······<DisorderDisorderAssociationList·count="0"> |
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| ⋮ | ⋮ |
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| 675039 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
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| 675043 | ····</Disorder> | 675424 | ····</Disorder> |
| 675044 | ····<Disorder·id="29044"> | 675425 | ····<Disorder·id="29044"> |
| ⋮ | ⋮ |
| 683294 | ······</ExternalReferenceList> | 683675 | ······</ExternalReferenceList> |
| 683295 | ······<DisorderDisorderAssociationList·count="0"> | 683676 | ······<DisorderDisorderAssociationList·count="0"> |
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| 683297 | ······<SummaryInformationList·count="0"> | 683678 | ······<SummaryInformationList·count="1"> |
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| | 683686 | ············</TextSection> |
| | 683687 | ··········</TextSectionList> |
| | 683688 | ········</SummaryInformation> |
| 683298 | ······</SummaryInformationList> | 683689 | ······</SummaryInformationList> |
| 683299 | ····</Disorder> | 683690 | ····</Disorder> |
| 683300 | ····<Disorder·id="13438"> | 683691 | ····<Disorder·id="13438"> |
| ⋮ | ⋮ |
| 684592 | ····<Disorder·id="13392"> | 684983 | ····<Disorder·id="13392"> |
| 684593 | ······<OrphaCode>98375</OrphaCode> | 684984 | ······<OrphaCode>98375</OrphaCode> |
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| 684595 | ······<Name·lang="nl">Auto-immune·hemolytische·anemie</Name> | 684986 | ······<Name·lang="nl">Auto-immuun·hemolytische·anemie</Name> |
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| ⋮ | ⋮ |
| 685223 | ··········</DisorderDisorderAssociationType> | 685614 | ··········</DisorderDisorderAssociationType> |
| 685224 | ········</DisorderDisorderAssociation> | 685615 | ········</DisorderDisorderAssociation> |
| 685225 | ······</DisorderDisorderAssociationList> | 685616 | ······</DisorderDisorderAssociationList> |
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| 685231 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
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| 685233 | ········</SummaryInformation> | |
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| 685235 | ····</Disorder> | 685619 | ····</Disorder> |
| 685236 | ····<Disorder·id="13503"> | 685620 | ····<Disorder·id="13503"> |
| ⋮ | ⋮ |
| 685320 | ······</ExternalReferenceList> | 685704 | ······</ExternalReferenceList> |
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| 685322 | ······</DisorderDisorderAssociationList> | 685706 | ······</DisorderDisorderAssociationList> |
| 685323 | ······<SummaryInformationList·count="0"> | 685707 | ······<SummaryInformationList·count="1"> |
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| | 685714 | ··············<Contents>Een·zeldzaam·subtype·van·brachydactylie·type·B,·gekarakteriseerd·door·hypoplasie·of·aplasie·van·de·distale·falangen·van·vingers/tenen·2-5·met·of·zonder·nageldysplasie,·geassocieerd·met·fusie·van·de·middelste·en·distale·falangen,·brede·of·bifide·duim,·en·soms·distaal·en·proximaal·symfalangisme·of·syndactylie.·De·voeten·worden·minder·ernstig·getroffen·dan·de·handen.</Contents> |
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| 685325 | ····</Disorder> | 685719 | ····</Disorder> |
| 685326 | ····<Disorder·id="28736"> | 685720 | ····<Disorder·id="28736"> |
| ⋮ | ⋮ |
| 685466 | ······</ExternalReferenceList> | 685860 | ······</ExternalReferenceList> |
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| 685469 | ······<SummaryInformationList·count="1"> | 685863 | ······<SummaryInformationList·count="0"> |
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| 685478 | ····</Disorder> | 685865 | ····</Disorder> |
| 685479 | ····<Disorder·id="13445"> | 685866 | ····<Disorder·id="13445"> |
| ⋮ | ⋮ |
| 685568 | ······</ExternalReferenceList> | 685955 | ······</ExternalReferenceList> |
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| 685571 | ······<SummaryInformationList·count="0"> | 685958 | ······<SummaryInformationList·count="1"> |
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| 685573 | ····</Disorder> | 685970 | ····</Disorder> |
| 685574 | ····<Disorder·id="13451"> | 685971 | ····<Disorder·id="13451"> |
| ⋮ | ⋮ |
| 686784 | ······</ExternalReferenceList> | 687181 | ······</ExternalReferenceList> |
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| 686786 | ······</DisorderDisorderAssociationList> | 687183 | ······</DisorderDisorderAssociationList> |
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| | 687189 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 687190 | ··············</TextSectionType> |
| | 687191 | ··············<Contents>Een·zeldzame·bacteriële·infectieuze·aandoening,·gekarakteriseerd·door·infectie·van·een·natieve·of·prothetische·hartklep,·het·endocardiale·oppervlak,·of·een·geïmplanteerd·cardiaal·hulpmiddel.·De·voornaamste·causale·agentia·zijn·Gram-positieve·bacteriën,·doorgaans·van·de·geslachten·<i>Staphylococcus</i>·en·<i>Streptococcus</i>.·Verschijnselen·en·symptomen·zijn·onder·meer·hoge·koorts·of·langdurige·subfebriele·toestand,·overmatige·transpiratie,·malaise,·asthenie,·artralgie,·myalgie,·gewichtsverlies,·hoofdpijn,·misselijkheid,·dyspneu,·hoest,·hartgeruis,·en·petechiën·van·huid.·De·meest·gangbare·complicaties·zijn·embolie·in·verschillende·organen·en·ischemische·beroerte,·sepsis,·hartfalen,·en·nierfalen.</Contents> |
| | 687192 | ············</TextSection> |
| | 687193 | ··········</TextSectionList> |
| | 687194 | ········</SummaryInformation> |
| 686788 | ······</SummaryInformationList> | 687195 | ······</SummaryInformationList> |
| 686789 | ····</Disorder> | 687196 | ····</Disorder> |
| 686790 | ····<Disorder·id="13511"> | 687197 | ····<Disorder·id="13511"> |
| ⋮ | ⋮ |
| 687038 | ······</ExternalReferenceList> | 687445 | ······</ExternalReferenceList> |
| 687039 | ······<DisorderDisorderAssociationList·count="0"> | 687446 | ······<DisorderDisorderAssociationList·count="0"> |
| 687040 | ······</DisorderDisorderAssociationList> | 687447 | ······</DisorderDisorderAssociationList> |
| 687041 | ······<SummaryInformationList·count="0"> | 687448 | ······<SummaryInformationList·count="1"> |
| | 687449 | ········<SummaryInformation·id="129127"·lang="nl"> |
| | 687450 | ··········<TextSectionList·count="1"> |
| | 687451 | ············<TextSection·id="167980"·lang="nl"> |
| | 687452 | ··············<TextSectionType·id="16907"> |
| | 687453 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 687454 | ··············</TextSectionType> |
| | 687455 | ··············<Contents>Een·zeldzame·aandoening·door·intoxicatie,·gekarakteriseerd·door·acute·aanvang·van·potentieel·levensbedreigende·ziekte·na·inname,·inhalatie·of·injectie·van·ricine,·een·lectine·dat·aanwezig·is·in·zaden·van·<i>Ricinus·communis</i>,·de·wonderboom.·De·klinische·presentatie·hangt·af·van·de·route·van·toediening,·waarbij·inhalatie·de·meest·toxische·route·is,·gevolgd·door·orale·inname.·Presenterende·verschijnselen·en·symptomen·zijn·onder·meer·misselijkheid,·braken,·diarree,·hematemese,·en·melena·(na·inname),·hoest,·piepende·ademhaling,·dyspneu,·pijnlijke·keel,·en·congestie·(na·inhalatie),·en·erytheem,·induratie,·blaarvorming,·capillair-leksyndroom,·en·gelokaliseerde·necrose·(na·injectie).·De·aandoening·kan·evolueren·naar·insulten,·shock,·orgaanfalen,·longoedeem,·en·respiratoir·falen.</Contents> |
| | 687456 | ············</TextSection> |
| | 687457 | ··········</TextSectionList> |
| | 687458 | ········</SummaryInformation> |
| 687042 | ······</SummaryInformationList> | 687459 | ······</SummaryInformationList> |
| 687043 | ····</Disorder> | 687460 | ····</Disorder> |
| 687044 | ····<Disorder·id="28675"> | 687461 | ····<Disorder·id="28675"> |
| ⋮ | ⋮ |
| 687123 | ····<Disorder·id="28673"> | 687540 | ····<Disorder·id="28673"> |
| 687124 | ······<OrphaCode>570422</OrphaCode> | 687541 | ······<OrphaCode>570422</OrphaCode> |
| 687125 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=570422</ExpertLink> | 687542 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=570422</ExpertLink> |
| 687126 | ······<Name·lang="nl">Galactosemutarotase-deficiëntie</Name> | 687543 | ······<Name·lang="nl">Deficiëntie·van·galactosemutarotase</Name> |
| 687127 | ······<DisorderFlagList·count="1"> | 687544 | ······<DisorderFlagList·count="1"> |
| 687128 | ········<DisorderFlag·id="475"> | 687545 | ········<DisorderFlag·id="475"> |
| 687129 | ··········<Value>1</Value> | 687546 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 687168 | ······</ExternalReferenceList> | 687585 | ······</ExternalReferenceList> |
| 687169 | ······<DisorderDisorderAssociationList·count="0"> | 687586 | ······<DisorderDisorderAssociationList·count="0"> |
| 687170 | ······</DisorderDisorderAssociationList> | 687587 | ······</DisorderDisorderAssociationList> |
| 687171 | ······<SummaryInformationList·count="0"> | 687588 | ······<SummaryInformationList·count="1"> |
| | 687589 | ········<SummaryInformation·id="129155"·lang="nl"> |
| | 687590 | ··········<TextSectionList·count="1"> |
| | 687591 | ············<TextSection·id="168008"·lang="nl"> |
| | 687592 | ··············<TextSectionType·id="16907"> |
| | 687593 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 687594 | ··············</TextSectionType> |
| | 687595 | ··············<Contents>Een·zeldzame·stoornis·van·galactosemetabolisme,·gekarakteriseerd·door·persisterende·congenitale·galactosemie·door·deficiëntie·van·het·enzym·galactose-mutarotase.·Patiënten·vertonen·mogelijk·bilateraal·cataract,·terwijl·gastro-intestinale·symptomen·of·ernstige·leverdisfunctie·afwezig·zijn.·Het·natuurlijke·ziekteverloop·is·niet·gekend.·Ernstige·complicaties,·zoals·neurologische·symptomen,·werden·nog·niet·gerapporteerd·bij·vroege·behandeling·met·een·galactosearm·dieet.</Contents> |
| | 687596 | ············</TextSection> |
| | 687597 | ··········</TextSectionList> |
| | 687598 | ········</SummaryInformation> |
| 687172 | ······</SummaryInformationList> | 687599 | ······</SummaryInformationList> |
| 687173 | ····</Disorder> | 687600 | ····</Disorder> |
| 687174 | ····<Disorder·id="28672"> | 687601 | ····<Disorder·id="28672"> |
| ⋮ | ⋮ |
| 691891 | ······</ExternalReferenceList> | 692318 | ······</ExternalReferenceList> |
| 691892 | ······<DisorderDisorderAssociationList·count="0"> | 692319 | ······<DisorderDisorderAssociationList·count="0"> |
| 691893 | ······</DisorderDisorderAssociationList> | 692320 | ······</DisorderDisorderAssociationList> |
| 691894 | ······<SummaryInformationList·count="1"> | 692321 | ······<SummaryInformationList·count="0"> |
| 691895 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 691896 | ··········<TextSectionList·count="0"> | |
| 691897 | ··········</TextSectionList> | |
| 691898 | ··········<TextAuto> | |
| 691899 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 691900 | ··········</TextAuto> | |
| 691901 | ········</SummaryInformation> | |
| 691902 | ······</SummaryInformationList> | 692322 | ······</SummaryInformationList> |
| 691903 | ····</Disorder> | 692323 | ····</Disorder> |
| 691904 | ····<Disorder·id="14950"> | 692324 | ····<Disorder·id="14950"> |
| ⋮ | ⋮ |
| 691938 | ······</ExternalReferenceList> | 692358 | ······</ExternalReferenceList> |
| 691939 | ······<DisorderDisorderAssociationList·count="0"> | 692359 | ······<DisorderDisorderAssociationList·count="0"> |
| 691940 | ······</DisorderDisorderAssociationList> | 692360 | ······</DisorderDisorderAssociationList> |
| 691941 | ······<SummaryInformationList·count="1"> | 692361 | ······<SummaryInformationList·count="0"> |
| 691942 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 691943 | ··········<TextSectionList·count="0"> | |
| 691944 | ··········</TextSectionList> | |
| 691945 | ··········<TextAuto> | |
| 691946 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 691947 | ··········</TextAuto> | |
| 691948 | ········</SummaryInformation> | |
| 691949 | ······</SummaryInformationList> | 692362 | ······</SummaryInformationList> |
| 691950 | ····</Disorder> | 692363 | ····</Disorder> |
| 691951 | ····<Disorder·id="14957"> | 692364 | ····<Disorder·id="14957"> |
| ⋮ | ⋮ |
| 697567 | ····<Disorder·id="14734"> | 697980 | ····<Disorder·id="14734"> |
| 697568 | ······<OrphaCode>101023</OrphaCode> | 697981 | ······<OrphaCode>101023</OrphaCode> |
| 697569 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=101023</ExpertLink> | 697982 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=101023</ExpertLink> |
| 697570 | ······<Name·lang="nl">Gespleten·hard·verhemelte</Name> | 697983 | ······<Name·lang="nl">Schisis·van·palatum·durum</Name> |
| 697571 | ······<DisorderFlagList·count="1"> | 697984 | ······<DisorderFlagList·count="1"> |
| 697572 | ········<DisorderFlag·id="475"> | 697985 | ········<DisorderFlag·id="475"> |
| 697573 | ··········<Value>1</Value> | 697986 | ··········<Value>1</Value> |
| 697574 | ··········<Label></Label> | 697987 | ··········<Label></Label> |
| 697575 | ········</DisorderFlag> | 697988 | ········</DisorderFlag> |
| 697576 | ······</DisorderFlagList> | 697989 | ······</DisorderFlagList> |
| 697577 | ······<SynonymList·count="0"> | 697990 | ······<SynonymList·count="1"> |
| | 697991 | ········<Synonym·lang="nl">Gespleten·hard·verhemelte</Synonym> |
| 697578 | ······</SynonymList> | 697992 | ······</SynonymList> |
| 697579 | ······<DisorderType·id="21415"> | 697993 | ······<DisorderType·id="21415"> |
| 697580 | ········<Name·lang="nl">Morfologische·anomalie</Name> | 697994 | ········<Name·lang="nl">Morfologische·anomalie</Name> |
| ⋮ | ⋮ |
| 700620 | ······</ExternalReferenceList> | 701034 | ······</ExternalReferenceList> |
| 700621 | ······<DisorderDisorderAssociationList·count="0"> | 701035 | ······<DisorderDisorderAssociationList·count="0"> |
| 700622 | ······</DisorderDisorderAssociationList> | 701036 | ······</DisorderDisorderAssociationList> |
| 700623 | ······<SummaryInformationList·count="1"> | 701037 | ······<SummaryInformationList·count="0"> |
| 700624 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 700625 | ··········<TextSectionList·count="0"> | |
| 700626 | ··········</TextSectionList> | |
| 700627 | ··········<TextAuto> | |
| 700628 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 700629 | ··········</TextAuto> | |
| 700630 | ········</SummaryInformation> | |
| 700631 | ······</SummaryInformationList> | 701038 | ······</SummaryInformationList> |
| 700632 | ····</Disorder> | 701039 | ····</Disorder> |
| 700633 | ····<Disorder·id="14663"> | 701040 | ····<Disorder·id="14663"> |
| ⋮ | ⋮ |
| 700662 | ··········</DisorderDisorderAssociationType> | 701069 | ··········</DisorderDisorderAssociationType> |
| 700663 | ········</DisorderDisorderAssociation> | 701070 | ········</DisorderDisorderAssociation> |
| 700664 | ······</DisorderDisorderAssociationList> | 701071 | ······</DisorderDisorderAssociationList> |
| 700665 | ······<SummaryInformationList·count="1"> | 701072 | ······<SummaryInformationList·count="0"> |
| 700666 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 700667 | ··········<TextSectionList·count="0"> | |
| 700668 | ··········</TextSectionList> | |
| 700669 | ··········<TextAuto> | |
| 700670 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 700671 | ··········</TextAuto> | |
| 700672 | ········</SummaryInformation> | |
| 700673 | ······</SummaryInformationList> | 701073 | ······</SummaryInformationList> |
| 700674 | ····</Disorder> | 701074 | ····</Disorder> |
| 700675 | ····<Disorder·id="14662"> | 701075 | ····<Disorder·id="14662"> |
| ⋮ | ⋮ |
| 701390 | ··········<Label></Label> | 701790 | ··········<Label></Label> |
| 701391 | ········</DisorderFlag> | 701791 | ········</DisorderFlag> |
| 701392 | ······</DisorderFlagList> | 701792 | ······</DisorderFlagList> |
| 701393 | ······<SynonymList·count="1"> | 701793 | ······<SynonymList·count="2"> |
| 701394 | ········<Synonym·lang="nl">BSI</Synonym> | 701794 | ········<Synonym·lang="nl">BSI</Synonym> |
| | 701795 | ········<Synonym·lang="nl">Bathing·suit·ichthyosis</Synonym> |
| 701395 | ······</SynonymList> | 701796 | ······</SynonymList> |
| 701396 | ······<DisorderType·id="21394"> | 701797 | ······<DisorderType·id="21394"> |
| 701397 | ········<Name·lang="nl">Ziekte</Name> | 701798 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 702531 | ······</ExternalReferenceList> | 702932 | ······</ExternalReferenceList> |
| 702532 | ······<DisorderDisorderAssociationList·count="0"> | 702933 | ······<DisorderDisorderAssociationList·count="0"> |
| 702533 | ······</DisorderDisorderAssociationList> | 702934 | ······</DisorderDisorderAssociationList> |
| 702534 | ······<SummaryInformationList·count="1"> | 702935 | ······<SummaryInformationList·count="0"> |
| 702535 | ········<SummaryInformation·id="-1"·lang="nl"> | |
| 702536 | ··········<TextSectionList·count="0"> | |
| 702537 | ··········</TextSectionList> | |
| 702538 | ··········<TextAuto> | |
| 702539 | ············<Info·lang="nl">Deze·term·is·niet·kenmerkend·voor·één·ziekte·maar·voor·een·groep·van·ziekten.·Om·meer·te·leren·over·de·ziekten·die·overeenkomen·met·deze·term,·kan·u·de·classificatie·raadplegen.</Info> | |
| 702540 | ··········</TextAuto> | |
| 702541 | ········</SummaryInformation> | |
| 702542 | ······</SummaryInformationList> | 702936 | ······</SummaryInformationList> |
| 702543 | ····</Disorder> | 702937 | ····</Disorder> |
| 702544 | ····<Disorder·id="14649"> | 702938 | ····<Disorder·id="14649"> |
| ⋮ | ⋮ |
| 702631 | ····<Disorder·id="14655"> | 703025 | ····<Disorder·id="14655"> |
| 702632 | ······<OrphaCode>100083</OrphaCode> | 703026 | ······<OrphaCode>100083</OrphaCode> |
| 702633 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=100083</ExpertLink> | 703027 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=100083</ExpertLink> |
| 702634 | ······<Name·lang="nl">Neuro-endocriene·tumor·van·de·larynx</Name> | 703028 | ······<Name·lang="nl">Neuro-endocriene·tumor·van·larynx</Name> |
| 702635 | ······<DisorderFlagList·count="1"> | 703029 | ······<DisorderFlagList·count="1"> |
| 702636 | ········<DisorderFlag·id="475"> | 703030 | ········<DisorderFlag·id="475"> |
| 702637 | ··········<Value>1</Value> | 703031 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 702640 | ······</DisorderFlagList> | 703034 | ······</DisorderFlagList> |
| 702641 | ······<SynonymList·count="2"> | 703035 | ······<SynonymList·count="2"> |
| 702642 | ········<Synonym·lang="nl">Laryngeale·neuro-endocriene·tumor</Synonym> | 703036 | ········<Synonym·lang="nl">Laryngeale·neuro-endocriene·tumor</Synonym> |
| 702643 | ········<Synonym·lang="nl">Neuro-endocriene·tumor·van·het·strottenhoofd</Synonym> | 703037 | ········<Synonym·lang="nl">Neuro-endocriene·tumor·van·strottenhoofd</Synonym> |
| 702644 | ······</SynonymList> | 703038 | ······</SynonymList> |
| 702645 | ······<DisorderType·id="21394"> | 703039 | ······<DisorderType·id="21394"> |
| 702646 | ········<Name·lang="nl">Ziekte</Name> | 703040 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 702678 | ······</ExternalReferenceList> | 703072 | ······</ExternalReferenceList> |
| 702679 | ······<DisorderDisorderAssociationList·count="0"> | 703073 | ······<DisorderDisorderAssociationList·count="0"> |
| 702680 | ······</DisorderDisorderAssociationList> | 703074 | ······</DisorderDisorderAssociationList> |
| 702681 | ······<SummaryInformationList·count="0"> | 703075 | ······<SummaryInformationList·count="1"> |
| | 703076 | ········<SummaryInformation·id="129129"·lang="nl"> |
| | 703077 | ··········<TextSectionList·count="1"> |
| | 703078 | ············<TextSection·id="167982"·lang="nl"> |
| | 703079 | ··············<TextSectionType·id="16907"> |
| | 703080 | ················<Name·lang="nl">Definitie·ziekte</Name> |
| | 703081 | ··············</TextSectionType> |
| | 703082 | ··············<Contents>Een·zeldzame·tumor·van·hoofd·en·hals,·gekarakteriseerd·door·een·epitheliaal·neoplasma·met·bewijs·van·neuro-endocriene·differentiatie,·meestal·gesitueerd·in·de·supraglottische·larynx.·De·tumor·kan·goed,·matig·of·slecht·gedifferentieerd·zijn,·en·deze·laatste·groep·wordt·verder·onderverdeeld·in·kleincellige·en·grootcellige·neuro-endocriene·carcinomen.·Er·is·een·sterke·associatie·met·tabaksgebruik.·Patiënten·presenteren·zich·met·heesheid,·dysfagie,·pijnlijke·keel,·obstructie·van·luchtwegen,·hemoptoë,·en·in·zeldzame·gevallen·een·paraneoplastisch·syndroom·als·gevolg·van·aberrante·productie·van·hormoon.·Slecht·gedifferentieerde·tumoren·zijn·zeer·agressief·met·hoge·percentages·van·regionale·metastase·en·metastase·op·afstand.</Contents> |
| | 703083 | ············</TextSection> |
| | 703084 | ··········</TextSectionList> |
| | 703085 | ········</SummaryInformation> |
| 702682 | ······</SummaryInformationList> | 703086 | ······</SummaryInformationList> |
| 702683 | ····</Disorder> | 703087 | ····</Disorder> |
| 702684 | ····<Disorder·id="14652"> | 703088 | ····<Disorder·id="14652"> |
| ⋮ | ⋮ |
| 703139 | ······<SynonymList·count="4"> | 703543 | ······<SynonymList·count="4"> |
| 703140 | ········<Synonym·lang="nl">Alfa-HCD</Synonym> | 703544 | ········<Synonym·lang="nl">Alfa-HCD</Synonym> |
| 703141 | ········<Synonym·lang="nl">IPSID</Synonym> | 703545 | ········<Synonym·lang="nl">IPSID</Synonym> |
| 703142 | ········<Synonym·lang="nl">Immunoproliferatieve·ziekte·van·de·dunne·darm</Synonym> | 703546 | ········<Synonym·lang="nl">Immunoproliferatieve·ziekte·van·dunne·darm</Synonym> |
| 703143 | ········<Synonym·lang="nl">Mediterraan·lymfoom</Synonym> | 703547 | ········<Synonym·lang="nl">Mediterraan·lymfoom</Synonym> |
| 703144 | ······</SynonymList> | 703548 | ······</SynonymList> |
| 703145 | ······<DisorderType·id="21450"> | 703549 | ······<DisorderType·id="21450"> |
| ⋮ | ⋮ |
| 710294 | ····<Disorder·id="14473"> | 710698 | ····<Disorder·id="14473"> |
| 710295 | ······<OrphaCode>99900</OrphaCode> | 710699 | ······<OrphaCode>99900</OrphaCode> |
| 710296 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=99900</ExpertLink> | 710700 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=99900</ExpertLink> |
| 710297 | ······<Name·lang="nl">Lange·keten·acyl-CoA-dehydrogenasedeficiëntie</Name> | 710701 | ······<Name·lang="nl">Deficiëntie·van·lange-keten-acyl-CoA-dehydrogenase</Name> |
| 710298 | ······<DisorderFlagList·count="3"> | 710702 | ······<DisorderFlagList·count="3"> |
| 710299 | ········<DisorderFlag·id="495"> | 710703 | ········<DisorderFlag·id="495"> |
| 710300 | ··········<Value>8192</Value> | 710704 | ··········<Value>8192</Value> |
| ⋮ | ⋮ |
| 710557 | ······</DisorderFlagList> | 710961 | ······</DisorderFlagList> |
| 710558 | ······<SynonymList·count="3"> | 710962 | ······<SynonymList·count="3"> |
| 710559 | ········<Synonym·lang="nl">Adrenaal·syndroom·van·Cushing</Synonym> | 710963 | ········<Synonym·lang="nl">Adrenaal·syndroom·van·Cushing</Synonym> |
| 710560 | ········<Synonym·lang="nl">Adrenocorticotropisch·hormoon-onafhankelijke·syndroom·van·Cushing</Synonym> | 710964 | ········<Synonym·lang="nl">Adrenocorticotroop·hormoon-onafhankelijke·syndroom·van·Cushing</Synonym> |
| 710561 | ········<Synonym·lang="nl">Corticotropine-onafhankelijk·syndroom·van·Cushing</Synonym> | 710965 | ········<Synonym·lang="nl">Corticotropine-onafhankelijk·syndroom·van·Cushing</Synonym> |
| 710562 | ······</SynonymList> | 710966 | ······</SynonymList> |
| 710563 | ······<DisorderType·id="21436"> | 710967 | ······<DisorderType·id="21436"> |
| ⋮ | ⋮ |
| 710586 | ··········<TargetDisorder·id="14466"·cycle="true"/> | 710990 | ··········<TargetDisorder·id="14466"·cycle="true"/> |
| 710587 | ··········<RootDisorder·id="18373"> | 710991 | ··········<RootDisorder·id="18373"> |
| 710588 | ············<OrphaCode>189424</OrphaCode> | 710992 | ············<OrphaCode>189424</OrphaCode> |
| 710589 | ············<Name·lang="nl">OBSOLEET:·ACTH-onafhankelijk·Cushingsyndroom·door·bilaterale·adrenocorticale·hyperplasie</Name> | 710993 | ············<Name·lang="nl">OBSOLEET:·ACTH-onafhankelijk·syndroom·van·Cushing·door·bilaterale·adrenocorticale·hyperplasie</Name> |
| 710590 | ··········</RootDisorder> | 710994 | ··········</RootDisorder> |
| 710591 | ··········<DisorderDisorderAssociationType·id="27341"> | 710995 | ··········<DisorderDisorderAssociationType·id="27341"> |
| 710592 | ············<Name·lang="nl">Referred·to</Name> | 710996 | ············<Name·lang="nl">Referred·to</Name> |
| ⋮ | ⋮ |
| 710618 | ······</DisorderFlagList> | 711022 | ······</DisorderFlagList> |
| 710619 | ······<SynonymList·count="3"> | 711023 | ······<SynonymList·count="3"> |
| 710620 | ········<Synonym·lang="nl">ACTH-afhankelijk·CS</Synonym> | 711024 | ········<Synonym·lang="nl">ACTH-afhankelijk·CS</Synonym> |
| 710621 | ········<Synonym·lang="nl">Adrenocorticotropisch·hormoon-afhankelijke·syndroom·van·Cushing</Synonym> | 711025 | ········<Synonym·lang="nl">Adrenocorticotroop·hormoon-afhankelijke·syndroom·van·Cushing</Synonym> |
| 710622 | ········<Synonym·lang="nl">Corticotropineafhankelijk·syndroom·vanCushing</Synonym> | 711026 | ········<Synonym·lang="nl">Corticotropineafhankelijk·syndroom·vanCushing</Synonym> |
| 710623 | ······</SynonymList> | 711027 | ······</SynonymList> |
| 710624 | ······<DisorderType·id="21436"> | 711028 | ······<DisorderType·id="21436"> |
| ⋮ | ⋮ |
| 711233 | ····<Disorder·id="14462"> | 711637 | ····<Disorder·id="14462"> |
| 711234 | ······<OrphaCode>99889</OrphaCode> | 711638 | ······<OrphaCode>99889</OrphaCode> |
| 711235 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=99889</ExpertLink> | 711639 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=99889</ExpertLink> |
| 711236 | ······<Name·lang="nl">Cushingsyndroom·door·ectopische·ACTH-secretie</Name> | 711640 | ······<Name·lang="nl">Syndroom·van·Cushing·door·ectopische·ACTH-secretie</Name> |
| 711237 | ······<DisorderFlagList·count="1"> | 711641 | ······<DisorderFlagList·count="1"> |
| 711238 | ········<DisorderFlag·id="475"> | 711642 | ········<DisorderFlag·id="475"> |
| 711239 | ··········<Value>1</Value> | 711643 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 711241 | ········</DisorderFlag> | 711645 | ········</DisorderFlag> |
| 711242 | ······</DisorderFlagList> | 711646 | ······</DisorderFlagList> |
| 711243 | ······<SynonymList·count="5"> | 711647 | ······<SynonymList·count="5"> |
| 711244 | ········<Synonym·lang="nl">Adrenocorticotropisch·hormoon-secretiesyndroom</Synonym> | 711648 | ········<Synonym·lang="nl">Adrenocorticotroop·hormoon-secretiesyndroom</Synonym> |
| 711245 | ········<Synonym·lang="nl">Ectopisch·Cushingsyndroom</Synonym> | 711649 | ········<Synonym·lang="nl">Ectopisch·syndroom·van·Cushing</Synonym> |
| 711246 | ········<Synonym·lang="nl">Ectopische·ACTH-secreterende·tumor</Synonym> | 711650 | ········<Synonym·lang="nl">Ectopische·ACTH-secreterende·tumor</Synonym> |
| 711247 | ········<Synonym·lang="nl">Occulte·ectopische·ACTH-secretie</Synonym> | 711651 | ········<Synonym·lang="nl">Occulte·ectopische·ACTH-secretie</Synonym> |
| 711248 | ········<Synonym·lang="nl">Paraneoplastisch·Cushingsyndroom</Synonym> | 711652 | ········<Synonym·lang="nl">Paraneoplastisch·syndroom·van·Cushing</Synonym> |
| 711249 | ······</SynonymList> | 711653 | ······</SynonymList> |
| 711250 | ······<DisorderType·id="21394"> | 711654 | ······<DisorderType·id="21394"> |
| 711251 | ········<Name·lang="nl">Ziekte</Name> | 711655 | ········<Name·lang="nl">Ziekte</Name> |
| ⋮ | ⋮ |
| 712556 | ····<Disorder·id="14416"> | 712960 | ····<Disorder·id="14416"> |
| 712557 | ······<OrphaCode>99843</OrphaCode> | 712961 | ······<OrphaCode>99843</OrphaCode> |
| 712558 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=99843</ExpertLink> | 712962 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=99843</ExpertLink> |
| 712559 | ······<Name·lang="nl">Leukocytadhesiedeficiëntie·type·II</Name> | 712963 | ······<Name·lang="nl">Deficiëntie·van·leukocytenadhesie·type·II</Name> |
| 712560 | ······<DisorderFlagList·count="1"> | 712964 | ······<DisorderFlagList·count="1"> |
| 712561 | ········<DisorderFlag·id="475"> | 712965 | ········<DisorderFlag·id="475"> |
| 712562 | ··········<Value>1</Value> | 712966 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 712635 | ····<Disorder·id="14417"> | 713039 | ····<Disorder·id="14417"> |
| 712636 | ······<OrphaCode>99844</OrphaCode> | 713040 | ······<OrphaCode>99844</OrphaCode> |
| 712637 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=99844</ExpertLink> | 713041 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=99844</ExpertLink> |
| 712638 | ······<Name·lang="nl">Leukocytadhesiedeficiëntie·type·III</Name> | 713042 | ······<Name·lang="nl">Deficiëntie·van·leukocytenadhesie·type·III</Name> |
| 712639 | ······<DisorderFlagList·count="1"> | 713043 | ······<DisorderFlagList·count="1"> |
| 712640 | ········<DisorderFlag·id="475"> | 713044 | ········<DisorderFlag·id="475"> |
| 712641 | ··········<Value>1</Value> | 713045 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 713538 | ····<Disorder·id="14415"> | 713942 | ····<Disorder·id="14415"> |
| 713539 | ······<OrphaCode>99842</OrphaCode> | 713943 | ······<OrphaCode>99842</OrphaCode> |
| 713540 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=99842</ExpertLink> | 713944 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=99842</ExpertLink> |
| 713541 | ······<Name·lang="nl">Leukocytadhesiedeficiëntie·type·I</Name> | 713945 | ······<Name·lang="nl">Deficiëntie·van·leukocytenadhesie·type·I</Name> |
| 713542 | ······<DisorderFlagList·count="1"> | 713946 | ······<DisorderFlagList·count="1"> |
| 713543 | ········<DisorderFlag·id="475"> | 713947 | ········<DisorderFlag·id="475"> |
| 713544 | ··········<Value>1</Value> | 713948 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 713774 | ····<Disorder·id="14390"> | 714178 | ····<Disorder·id="14390"> |
| 713775 | ······<OrphaCode>99817</OrphaCode> | 714179 | ······<OrphaCode>99817</OrphaCode> |
| 713776 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=99817</ExpertLink> | 714180 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=99817</ExpertLink> |
| 713777 | ······<Name·lang="nl">Niet-polyposis·Turcotsyndroom</Name> | 714181 | ······<Name·lang="nl">Syndroom·van·Turcot·zonder·polyposis</Name> |
| 713778 | ······<DisorderFlagList·count="3"> | 714182 | ······<DisorderFlagList·count="3"> |
| 713779 | ········<DisorderFlag·id="495"> | 714183 | ········<DisorderFlag·id="495"> |
| 713780 | ··········<Value>8192</Value> | 714184 | ··········<Value>8192</Value> |
| ⋮ | ⋮ |
| 713789 | ··········<Label></Label> | 714193 | ··········<Label></Label> |
| 713790 | ········</DisorderFlag> | 714194 | ········</DisorderFlag> |
| 713791 | ······</DisorderFlagList> | 714195 | ······</DisorderFlagList> |
| 713792 | ······<SynonymList·count="0"> | 714196 | ······<SynonymList·count="1"> |
| | 714197 | ········<Synonym·lang="nl">Non-polyposis·syndroom·van·Turcot</Synonym> |
| 713793 | ······</SynonymList> | 714198 | ······</SynonymList> |
| 713794 | ······<DisorderType·id="21450"> | 714199 | ······<DisorderType·id="21450"> |
| 713795 | ········<Name·lang="nl">Klinisch·subtype</Name> | 714200 | ········<Name·lang="nl">Klinisch·subtype</Name> |
| ⋮ | ⋮ |
| 714660 | ····<Disorder·id="14379"> | 715065 | ····<Disorder·id="14379"> |
| 714661 | ······<OrphaCode>99806</OrphaCode> | 715066 | ······<OrphaCode>99806</OrphaCode> |
| 714662 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=99806</ExpertLink> | 715067 | ······<ExpertLink·lang="nl">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=nl&Expert=99806</ExpertLink> |
| 714663 | ······<Name·lang="nl">Oculo-oto-dentaal·syndroom</Name> | 715068 | ······<Name·lang="nl">Oculo-otodentaal·syndroom</Name> |
| 714664 | ······<DisorderFlagList·count="1"> | 715069 | ······<DisorderFlagList·count="1"> |
| 714665 | ········<DisorderFlag·id="475"> | 715070 | ········<DisorderFlag·id="475"> |
| 714666 | ··········<Value>1</Value> | 715071 | ··········<Value>1</Value> |